ID   GM25438
AC   CVCL_CX86
DR   Coriell; GM25438
DR   Wikidata; Q54853964
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Ser738Ter (c.2213C>A); ClinVar=VCV000242482; Zygosity=Heterozygous (Coriell=GM25438).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3M
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 10
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