ID   UMi035-A
AC   CVCL_B5F1
DR   BioSamples; SAMEA112444977
DR   hPSCreg; UMi035-A
DR   Wikidata; Q110433938
CC   From: Miller School of Medicine, University of Miami; Miami; USA.
CC   Population: Jewish.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (from parent cell line).
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)
HI   CVCL_0R34 ! GM07968
SX   Male
AG   19FW
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
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