title: Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient.
abstract: Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD). The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele. STEMCCA lentivirus, which expresses OCT4, SOX2, KLF4, and c-MYC from a polycistronic transcript, were used for reprogramming. TSD-01-hiPSC express pluripotency markers such as OCT4, SOX2, NANOG, Tra-1-60, and alkaline phosphatase, and can differentiate into tissues from all the three embryonic germ layers. This TSD patient-derived hiPSC line may serve as a valuable in vitro tool for disease modeling and drug test.
authors.affiliation: Department of Biochemistry and Molecular Genetics, Stem Cell Institute, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
authors.forename: Zhong
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Biochemistry and Molecular Genetics, Stem Cell Institute, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address: ruizhao@uab.edu.
authors.forename: Rui
authors.initials: R
authors.lastname: Zhao
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000637:transplantation; D059785:Karyotype; D000090062:Kruppel-Like Factor 4; D008297:Male; D051379:Mice; D016688:Mice, Inbred NOD; D016254:Mutagenesis, Insertional; D013661:Tay-Sachs Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D013724:Teratoma / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D014183:Transplantation, Heterologous; D054820:beta-Hexosaminidase alpha Chain / Q000235:genetics*
chemical_list: C000715467:KLF4 protein, human; C000715468:Klf4 protein, mouse; D000090062:Kruppel-Like Factor 4; D014157:Transcription Factors; C518253:HEXA protein, human; D054820:beta-Hexosaminidase alpha Chain