ID   TRNDi001-D
AC   CVCL_UL07
SY   HT307D; GM28227
DR   Coriell; GM28227
DR   hPSCreg; TRNDi001-D
DR   Wikidata; Q98133571
RX   PubMed=32114296;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Sequence variation: Mutation; HGNC; 7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Homozygous (PubMed=32114296).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126864; Niemann-Pick disease, type C1
DI   ORDO; Orphanet_646; Niemann-Pick disease type C
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_DA78 ! GM18453
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=32114296; DOI=10.1016/j.scr.2020.101737;
RA   Li R., Pradhan M., Xu M., Roeder A., Beers J.K., Zou J.-H., Liu C.-Y.,
RA   Porter F.D., Zheng W.;
RT   "An induced pluripotent stem cell line (TRNDi001-D) from a
RT   Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous
RT   p.I1061T (c.3182T>C) mutation in the NPC1 gene.";
RL   Stem Cell Res. 44:101737-101737(2020).
//