Cellosaurus logo
expasy logo

Cellosaurus TSD-01-hiPSC (CVCL_A4NQ)

[Text][XML][JSON]
Cell line name TSD-01-hiPSC
Accession CVCL_A4NQ
Resource Identification Initiative To cite this cell line use: TSD-01-hiPSC (RRID:CVCL_A4NQ)
Comments From: University of Alabama at Birmingham; Birmingham; USA.
Population: Jewish; Ashkenazi.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (PubMed=27879213).
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; c.1421+1G>C (IVS12+1G>C); ClinVar=VCV000003890; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=27879213).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_U382 (GM00502)
Sex of cell Male
Age at sampling 11M
Category Induced pluripotent stem cell
Publications

PubMed=27879213; DOI=10.1016/j.scr.2016.08.010
Zhong Liu, Rui Zhao;
Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient.
Stem Cell Res. 17:289-291(2016)

Cross-references
Encyclopedic resources Wikidata; Q105511275
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6