ID   GM22230
AC   CVCL_DB15
DR   Coriell; GM22230
DR   Wikidata; Q54852441
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Arg978Cys (c.2932C>T); ClinVar=VCV000002976; Zygosity=Heterozygous (Coriell=GM22230).
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Unexplicit; IVS21-2A>G; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM22230).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   10Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 13
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