ID   GM20270
AC   CVCL_0R41
DR   CLO; CLO_0027831
DR   Coriell; GM20270
DR   Wikidata; Q54850879
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Gly39Aspfs*3 (c.115+1G>A) (IVS2+1G>A) (IVS2DS,G-A,+1); ClinVar=VCV000093445; Zygosity=Heterozygous; Note=Splice donor mutation that causes skipping of exon 2 (Coriell=GM20270).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (Coriell=GM20270).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 19
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