Well-characterized iPSC reference panels are critical for developmental and disease-modeling research. We generated eleven iPSC clones from fibroblasts collected from four healthy, unrelated donors (two female, two male) using non-integrating Sendai virus reprogramming. Each clone was extensively validated according to current best practices, demonstrating genetic stability, high expression of markers for the undifferentiated state and robust trilineage differentiation potential. This collection is distinguished not only by the depth of characterization and standardized workflows, but also by the deliberate inclusion of multiple clones per donor to capture and control for clone‑to‑clone variability. All clones are available to academic and commercial researchers.
High-quality, standardized iPSC reference lines are crucial for disease modeling and regenerative medicine. We generated and extensively characterized thirteen iPSC clones from PBMCs of five healthy donors (three female, two male) using non-integrating Sendai virus. This resource is distinguished by its standardized derivation and deep characterization and the deliberate generation of multiple clones per donor to capture and control for clonal variation. These validated lines are available to academic and commercial researchers to accelerate advances in stem cell biology and tissue engineering.
Anew in vitromodel for modeling Duchenne muscular dystrophy, derived from pediatric patient with a unique mutation in DMD gene is introduced. Peripheral blood was used as asource for primary cells (mononuclear cells) and subsequently reprogrammed into induced pluripotent stem cells with synthetic Sendai vector. Reprogrammed iPS cells showed the expression of pluripotency factors and the ability to differentiateinto all three germ layers.
Polyendocrine metabolic ovarian syndrome (PMOS) is a prevalent endocrine disorder with complex reproductive, metabolic, and psychological features. A total of fourteen induced pluripotent stem cell (iPSC) lines were generated from endometrial stromal fibroblasts using a CRISPRa-based reprogramming method, comprising seven iPSC lines obtained from women with PMOS (all three Rotterdam criteria) and seven from body mass index (BMI)-matched non-PMOS controls. This well-characterized resource provides a unique platform for investigating cell-intrinsic PMOS mechanisms, supporting targeted pathogenesis studies and translational advances.
In this manuscript, we report the development of a comprehensive resource designed to harness the transformative potential of patient-derived induced pluripotent stem cells (iPSCs) to advance the study of neurodevelopmental disorders (NDDs). Using CRISPR-Cas-mediated genome editing, the Human Neuron Core generated a repository comprising 29 isogenic iPSC pairs, two sex-matched parental control iPSC pairs, and one unmatched patient line representing six monogenic NDDs: Tuberous Sclerosis Complex, PTEN Hamartoma Tumor Syndrome, KCNQ2 Developmental and Epileptic Encephalopathy, FOXG1 Syndrome, Phelan-McDermid Syndrome, and SETBP1 Haploinsufficiency Disorder. In parallel, detailed clinical phenotyping data were collected to enable comparison of cellular phenotypes with clinical severity in future studies. This integrated collection of genetically defined iPSC lines and associated clinical data provides a powerful platform for investigating disease mechanisms and advancing iPSC-based drug discovery for NDDs.
Fabry disease (FD) is a monogenic, X-linked lysosomal storage disorder originating from mutations in the GLA gene, which encodes alpha-galactosidase A. Impaired enzyme activity leads to accumulation of the substrate globotriaosylceramide (Gb3) and a multisystemic phenotype. Here, we generated two human induced pluripotent stem cell (hiPSC) lines from a female FD patient carrying a heterozygous c.644A > G missense mutation. The hiPSCs displayed normal karyotype, typical morphology, trilineage differentiation capacity and expressed markers of undifferentiated hPSC state. Consequently, MHHi043-A and MHHi043-B provide a valuable resource for studying FD mechanisms and developing therapeutic strategies.
Copy number variations (deletions or duplications) in the 22q11.2 gene region are significantly correlated to a highly increased risk to develop mental disorder morbidity such as psychosis, attention-deficit/hyperactivity disorder (ADHD) or mood disorders. However, pathogenetic mechanisms are insufficiently understood. We generated iPSC from two deletion patients (one with major depressive disorder, one with specific phobia) and three duplication patients (one with recurrent major depressive disorder, one with ADHD, one with autistic traits). The iPSC lines represent a valuable resource to model pathogenesis in vitro.
Ultra-treatment-resistant schizophrenia (UTRS) is the most severe subtype of treatment refractoriness, with persistent symptoms despite clozapine use. Here, we report the generation of a human induced pluripotent stem cells (iPSCs) line, UJSi006-A, derived from peripheral blood mononuclear cells (PBMCs) of a 31-year-old female patient with UTRS. The iPSC line displayed typical human pluripotent stem cell morphology, a normal karyotype, expression of pluripotency markers, and the capacity to differentiate into derivatives of all three germ layers in vitro. This iPSC resource provides a cellular platform for investigating disease mechanisms and treatment resistance in schizophrenia
Premature ovarian insufficiency (POI) is characterized by impaired ovarian function before 40 years of age and is associated with heterogeneous etiologies. Herein, we established a human induced pluripotent stem cell (hiPSC) line, NTUHi003-A, from the peripheral blood mononuclear cells (PBMCs) of a patient with POI. The generated hiPSC line exhibited a normal 46, XX karyotype and demonstrated confirmed pluripotency. This cell line provides a valuable cellular platform for disease modeling and mechanistic studies of POI.
De novo pathogenic variants in KCNQ2 are a well-established cause of neurodevelopmental disorders, particularly developmental and epileptic encephalopathies. The KCNQ2 gene encodes the Kv7.2 subunit of a voltage-gated potassium channel that mediates the neuronal M-current and plays a key role in stabilizing the resting membrane potential. In this study, we established three induced pluripotent stem cell (iPSC) lines from dermal fibroblasts from a 4-year-old female patient carrying the KCNQ2 c.783A > C; p.Phe261Leu variant and a sibling control. These lines were characterized using standard validation methods, including confirmation of the pathogenic variant, SNP-based karyotyping, STR profiling, assessment of pluripotency marker expression, and evaluation of trilineage differentiation potential.
Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disorder caused by mutations in the DMD gene, resulting in the absence of functional dystrophin. The loss of dystrophin disrupts the dystrophin-associated protein complex (DAPC), leading to progressive degeneration of skeletal and cardiac muscles. Clinically, DMD is characterized by proximal muscle weakness, respiratory insufficiency, and dilated cardiomyopathy. Here, we report the generation of three induced pluripotent stem cell (iPSC) lines reprogrammed from peripheral blood mononuclear cells (PBMCs) of patients with DMD. These patient-derived iPSC lines constitute a relevant human cellular model for studying disease-associated phenotypes and evaluating potential therapeutic strategies.
We established two fully characterized induced pluripotent stem cell (iPSC) lines from human keratinocytes via Sendai virus-mediated reprogramming. This non-integrating approach maintains genomic integrity, facilitating the generation of pluripotent cell lines with stable self-renewal and multilineage differentiation potential. Characterization confirmed the expression of stemness markers, the capacity for trilineage differentiation, and a normal karyotype. The iPSC lines are a valuable platform for applications in disease modeling, pharmacological screening, and regenerative medicine.
Apolipoprotein E (apoE), encoded by the polymorphic APOE gene, plays a key role in lipid transport and metabolism. The three major APOE alleles are ε2, ε3, and ε4, with ε4 being the strongest genetic risk factor for late-onset Alzheimer's disease. We generated human induced pluripotent stem cells from peripheral blood mononuclear cells of a 67-year-old male patient with Alzheimer's disease carrying the APOE ε4/ε4 genotype. The generated cell line displayed typical iPSC morphology, a normal karyotype, trilineage differentiation potential, and pluripotency-marker expression, providing a resource for investigating APOE ε4-associated disease mechanisms and preclinical therapeutic screening.
Patient-derived induced pluripotent stem cells (hiPSC) are a valuable approach to model cardiovascular diseases. We nucleofected non-integrating episomal vectors in skin fibroblasts of four family members. Two of them carried the single nucleotide variant (SNV) SCN5A_c.287 T > C, leading to NaV1.5_p.L96P, and two were non-carrier family members. The resulting hiPSC cell lines differentiate into cells of the 3 germ layers, display normal karyotypes and express markers of the undifferentiated hPSC state. Thus, they are a reliable source to study the effect of the identified mutation in a physiologically relevant environment.
Metallothionein 4 (MT4) is a low-molecular-weight, cysteine-rich metal-binding protein belonging to the metallothionein family. It exhibits unique skin developmental and differentiation inhibitory activity when functionally impaired and regulates skin cell growth and disease through multiple mechanisms. However, its exact role in cell fate determination remains unknown. Here, we utilized the CRISPR/Cas9 system to generate a homozygous Mt4 knockout (Mt4−/−) mouse embryonic stem cell (mESC) line. This cell line maintains normal morphology, pluripotency, and the ability to differentiate into all three germ layers. It provides a valuable resource for investigating the mechanisms underlying skin diseases caused by MT4 gene mutations.
Spinocerebellar ataxia type 12 (SCA12) is a progressive late-onset neurodegenerative disorder caused by expansion of ≥ 43 trinucleotide CAG repeats in the upstream non-coding region of the PPP2R2B gene at locus 5q32 (SCA12; OMIM#604326). Clinically SCA12 patients predominately present hand tremor, gait ataxia, tremulous voice and other neurological and psychiatric features. Neuroimaging reveals degenerative changes in the cerebral cortex and cerebellum, however, the underlying disease mechanism at molecular level is still incompletely understood. Here we report generation of four induced pluripotent stem cells (iPSCs) of SCA12 patients. The established lines were positive for PPP2R2B-CAG expansion mutation and showed expression of undifferentiated hPSC state markers, three germ layer differentiation potential, normal genetic integrity and contamination-free culture.
NK2 homeobox 1 (NKX2-1), a master regulator robustly expressed in lung, thyroid, and forebrain, is indispensable for specifying lung epithelial fate and serves as a definitive marker of lung progenitors. Here, we generated a human induced Pluripotent Stem Cell (iPSC) line harboring a doxycycline (dox)-inducible Cas9 and an NKX2-1-EGFP-puro reporter via CRISPR/Cas9-mediated homology-directed repair. This dual-function line combines inducible genome editing with real-time tracing of early lung progenitors, enabling their prospective isolation and screening for stage-specific maturation regulators. Therefore, this engineered iCas9-NKX2-1 EGFP line is a key resource for dissecting human lung development, modeling pulmonary disease, and advancing regenerative therapies.
Familial Focal Epilepsy with Variable Foci 1 (FFEVF1) is an autosomal dominant epilepsy disorder characterized by focal seizures. Induced pluripotent stem cells (iPSCs) were derived from a 21-year-old epileptic patient carrying a heterozygous DEPDC5 c.2748 (C > G) (exon 29) variant. The derived iPSCs maintain a normal karyotype, express pluripotency markers, and retain the ability to differentiate into the three germ layers. iPSCs are for research use only, including scientific research and the development of anti-epileptic therapeutics.
The p.Pro23His (c.68C > A; P23H) mutation leads to autosomal dominant retinitis pigmentosa (adRP). Here, we reprogrammed adRP patient fibroblasts in human induced pluripotent stem cells (hiPSCs) using Sendai virus. We then generated two mutated hiPSC clones and three isogenic controls using CRISPR/Cas9. All five hiPSC lines express pluripotency genes and are able to differentiate into the three germ layers as well as retinal organoids. Altogether, these hiPSCs constitute unique biological tools to elucidate mechanisms of adRP linked to the RHO-P23H mutation.
A de novo variant, c.1172G > A (p. Arg391His) inTUBB4A causes late infantile TUBB4A-associated leukodystrophy with MRI features of isolated hypomyelination. To model and understand the disease pathology, we generated three induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of affected individuals using Sendai viral-mediated reprogramming under feeder-free conditions. All lines displayed normal morphology, expressed undifferentiated iPSC state markers, demonstrated trilineage differentiation, and showed normal STR identity, karyotype, and absence of reprogramming vectors. The reprogrammed iPSCs will enable us to model the isolated hypomyelination phenotype, dissect the underlying cellular mechanisms, and test various treatment targets.
