ID   GM22871
AC   CVCL_DB18
DR   Coriell; GM22871
DR   Wikidata; Q54852814
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; c.1554-1009G>A (IVS9-1009G>A); ClinVar=VCV000553804; Zygosity=Heterozygous (Coriell=GM22871).
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.His641Thrfs*2 (c.1920delG); ClinVar=VCV000281941; Zygosity=Heterozygous (Coriell=GM22871).
CC   Donor information: Established from monozygotic twin of GM22227 (Cellosaurus=CVCL_DB13) and GM22871 (Cellosaurus=CVCL_DB17).
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)
OI   CVCL_DB16 ! GM22256
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 14
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