ID   GM18453
AC   CVCL_DA78
DR   CLO; CLO_0031137
DR   Coriell; GM18453
DR   Wikidata; Q54849544
RX   PubMed=12955717;
CC   Sequence variation: Mutation; HGNC; 7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Homozygous (Coriell=GM18453).
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)
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 11
//
RX   PubMed=12955717; DOI=10.1002/humu.10255;
RA   Park W.D., O'Brien J.F., Lundquist P.A., Kraft D.L., Vockley C.W.,
RA   Karnes P.S., Patterson M.C., Snow K.;
RT   "Identification of 58 novel mutations in Niemann-Pick disease type C:
RT   correlation with biochemical phenotype and importance of PTC1-like
RT   domains in NPC1.";
RL   Hum. Mutat. 22:313-325(2003).
//