ID   GM23162
AC   CVCL_DB21
DR   Coriell; GM23162
DR   Wikidata; Q54852914
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Cys42Tyr (c.125G>A); Zygosity=Heterozygous (Coriell=GM23162).
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Asp948Asn (c.2842G>A); ClinVar=VCV000552987; Zygosity=Heterozygous (Coriell=GM23162).
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   1Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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