Cellosaurus logo
expasy logo

Cellosaurus GM27464 (CVCL_YE52)

[Text version]
Cell line name GM27464
Synonyms GM27464*C; HT138C
Accession CVCL_YE52
Resource Identification Initiative To cite this cell line use: GM27464 (RRID:CVCL_YE52)
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.Phe333Serfs*52 (c.996delC) (P330fs, 990delC); ClinVar=VCV000002990; Zygosity=Heterozygous (Coriell=GM27464).
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_AX25 (GM13205)
Sex of cell Female
Age at sampling 2Y
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; GM27464
Encyclopedic resources Wikidata; Q93933252
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number11