Cellosaurus logo
expasy logo

Cellosaurus GM27463 (CVCL_A8QQ)

[Text version]
Cell line name GM27463
Synonyms GM27463*A; HT139B
Accession CVCL_A8QQ
Resource Identification Initiative To cite this cell line use: GM27463 (RRID:CVCL_A8QQ)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11120; SMPD1; Simple; p.Leu304Pro (c.911T>C) (L302P); ClinVar=VCV000002989; Zygosity=Homozygous (Coriell=GM27463).
Disease Niemann-Pick disease, type A (NCIt: C126561)
Niemann-Pick disease type A (ORDO: Orphanet_77292)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_AX26 (GM16195)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=27484861; DOI=10.5966/sctm.2015-0373; PMCID=PMC5189647
Long Y., Xu M., Li R., Dai S., Beers J.K., Chen G.-K., Soheilian F., Baxa U., Wang M.-Q., Marugan J.J., Muro S., Li Z.-Y., Brady R.O., Zheng W.
Induced pluripotent stem cells for disease modeling and evaluation of therapeutics for Niemann-Pick disease type A.
Stem Cells Transl. Med. 5:1644-1655(2016)

Cross-references
Cell line collections (Providers) Coriell; GM27463
Encyclopedic resources Wikidata; Q108820295
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number7