ID   GM25439
AC   CVCL_DB22
DR   Coriell; GM25439
DR   Wikidata; Q54853965
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Ser738Ter (c.2213C>A); ClinVar=VCV000242482; Zygosity=Heterozygous (Coriell=GM25439).
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Pro1080Ilefs*18 (c.3234_3237dupATTT); ClinVar=VCV000242483; Zygosity=Heterozygous (Coriell=GM25439).
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   Female
AG   2Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
//