ID   GM18429
AC   CVCL_DA77
DR   CLO; CLO_0031147
DR   Coriell; GM18429
DR   Wikidata; Q54849541
RX   PubMed=12955717;
CC   Sequence variation: Mutation; HGNC; HGNC:14537; NPC2; Simple; c.82+2T>C (IVS1+2T>C); ClinVar=VCV000242903; Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM18429).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C126865; Niemann-Pick disease, type C2
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: 19-12-24; Version: 13
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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).
//