ID   GM27464
AC   CVCL_YE52
SY   GM27464*C; HT138C
DR   Coriell; GM27464
DR   Wikidata; Q93933252
RX   PubMed=27484861;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 11120; SMPD1; Simple; p.Phe333Serfs*52 (c.996delC) (P330fs, 990delC); ClinVar=VCV000002990; Zygosity=Heterozygous (Coriell=GM27464).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126561; Niemann-Pick disease, type A
DI   ORDO; Orphanet_77292; Niemann-Pick disease type A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_AX25 ! GM13205
SX   Female
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 30-01-24; Version: 10
//
RX   PubMed=27484861; DOI=10.5966/sctm.2015-0373;
RA   Long Y., Xu M., Li R., Dai S., Beers J.K., Chen G.-K., Soheilian F.,
RA   Baxa U., Wang M.-Q., Marugan J.J., Muro S., Li Z.-Y., Brady R.O.,
RA   Zheng W.;
RT   "Induced pluripotent stem cells for disease modeling and evaluation of
RT   therapeutics for Niemann-Pick disease type A.";
RL   Stem Cells Transl. Med. 5:1644-1655(2016).
//