A healthy 31-year-old Chinese Han female donated peripheral blood mononuclear cells (PBMC). Her PBMCs were reprogrammed with human OKSM (OCT3/4, KLF4 SOX2, and c-MYC) transcription factors by the non-integrating episomal vector system. Immunocytochemistry for pluripotency markers confirmed the pluripotency of transgene-free iPSCs. Their ability to differentiate spontaneously three germ layers in vitro is also confirmed. The iPSC line displayed a normal karyotype. This model can be used as a control in pathological mechanism studies.POU class 5 homeobox 1 (POU5F1, also known as OCT4) is critical for maintenance of pluripotency, germ cell fate, reprogramming into a pluripotent state, and early embryogenesis. We generated an embryonic stem cell (ESC) line of the common marmoset (Callithrix jacchus) harboring a heterozygous knock-in allele of OCT4-P2A-mCerulean-T2A-pac. The ESC line (CMES40-OC) will be valuable for investigation of primed/naïve pluripotency and germ cell fate. Homozygous OCT4 knock-in clones were generated but could not be sustained in an undifferentiated state in long-term culture. The OCT4 knock-in system facilitated simultaneous knock-in of a reporter construct at another locus, DDX4 (VASA).Germline missense mutations in the BAF swi/snf chromatin remodeling subunit SMARCA4 are associated with neurodevelopmental disorders, including Coffin Siris Syndrome (CSS). Here, we generated an induced pluripotent stem cell line from a male patient with atypical CSS features and a de novo heterozygous missense mutation in the SMARCA4 gene (c.3607C>T, p.(Arg1203Cys)). Hair root derived keratinocytes were reprogrammed using non-integrative Sendai virus vector delivery of pluripotency factors. iPSCs generated display normal morphology and molecular karyotype, express pluripotency markers and are able to differentiate into the three germ layers.Here, we described the generation of human induced pluripotent stem cells (iPSC) from peripheral blood mononuclear cells (PBMCs) of a 87-year-old female patient with sporadic Alzheimer's disease (sAD) having APOE3 (ε3/ε3) genotype. iPSC line were generated from PBMCs with four factors of OCT4, SOX2, c-MYC and KLF4 using episomal system. The pluripotency of the iPSC line was assessed by embryoid body (EB) formation. Flow cytometry analyses revealed >97% cells positive for the pluripotency markers NANOG, OCT4 and SSEA4. Furthermore, the iPSC line displayed a normal karyotype (46, XX). The iPSC line may provide valuable tools for the study of sAD pathogenesis.Left Ventricular Noncompaction Cardiomyopathy (LVNC) is characterized by excessive trabeculation of the left ventricle. To date, mutations in more than 40 genes have been associated with LVNC, however the exact mechanisms underlying the disease remain unknown. Here, we describe an induced pluripotent stem cell (iPSC) line (UALGi001-A) from a LVNC patient (LVNC-iPSC) that does not present mutations in the genes most commonly associated with the disease (van Waning et al., 2019). The LVNC-iPSC exhibited full pluripotency and differentiation potential, and retained a normal karyotype after reprogramming. This in vitro cellular model will be useful to study the molecular, genetic and functional aspects of LVNC.Autosomal dominant polycystic kidney disease (ADPKD) is one of the common genetic kidney disorders that are caused by mutations in PKD1 or PKD2 gene. In this report, the MUi026-A human induced pluripotent stem cell (hiPSC) line was established from the skin fibroblasts of a female ADPKD patient who had the PKD1 mutation with c.5878C > T. The iPSC line retained normal karyotype. The cells displayed embryonic stem cell-like characteristics with pluripotency marker expression and were able to differentiate into three germ layers.Heterozygous variants in the KCNQ3 gene cause epileptic and/or developmental disorders of varying severity. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a 9-year-old girl with pharmacodependent neonatal-onset epilepsy and intellectual disability who carry a homozygous single-base duplication in exon 12 of KCNQ3 (NM_004519.3 KCNQ3 c.1599dup; KCNQ3 p.PHE534ILEfs*15), and from a non-carrier brother of the proband. For iPSC generation, non-integrating episomal plasmid vectors were used to transfect fibroblasts isolated from skin biopsies. The obtained iPSC lines had a normal karyotype, showed embryonic stem cell-like morphology, expressed pluripotency markers, and possessed trilineage differentiation potential.The International Stem Cell Banking Initiative(ISCBI) was started in 2007 to bring together the leading stem cell banks distributing human pluripotent stem cell (hPSC) lines for research and development, to discuss best practice across a range of issues from donor consent to delivery of cells for use in research, diagnostics and cell-based medicines. ISCBI holds workshops around the world and on-line and regularly publishes summaries of discussions and consensus amongst experts in stem cell biology, biobanking technology, regulation and policy making. To date, experts from more than 28 countries have contributed to ISCBI activities which are frequently run in collaboration with other stem cell organisations and has co-ordinated closely with the International Stem Cell Initiative and the hPSCreg European Commission funded database of hPSC lines and clincal trials.Human ALX1 gene (ALX Homeobox 1) is a protein coding gene and gene ontology annotations related to this gene include DNA-binding transcription factor activity and protein heterdimerization activity. It is necessary for survival of forebrain mesenchyme and may be involved in development of cervix. However, the function of the gene has yet to be determined in humans. Here we generated an ALX1 homozygous human embryonic stem cell line (WAe001-A-060) by a CRISPR/Cas9 system. The WAe001-A-060 has a normal undifferentiated morphology and karyotype, pluripotency and three germ layers differentiation potential in vivo.Becker muscular dystrophy (BMD) is an X-linked recessive muscular disorder caused by mutations in the dystrophin. We generated a human iPSC line from peripheral blood mononuclear cells (PBMCs) of a patient with duplications of exons 2-19 in the dystrophin. https://www.selleckchem.com/products/gsk2193874.html The PBMCs were reprogrammed using the episomal reprogramming plasmids contained a combination of expressions of human OCT4, SOX2, NANOG, LIN28, C-MYC, KLF4 and SV40LT. We conducted the tests on the iPSCs including Karyotype analysis, expressed pluripotency markers and teratoma forming three germ layers. The iPSC line is a useful cell model to further research on genetic treatment or new therapeutic drugs. |