ID   TRNDi027-B
AC   CVCL_B5V2
SY   HT237B
DR   hPSCreg; TRNDi027-B
DR   Wikidata; Q112041858
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7897; NPC1; Simple; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Heterozygous (from parent cell line).
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_7374 ! GM03123
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//