ID   CET.IPS.FFGAU-500
AC   CVCL_RM15
SY   iPSC FFGAU
DR   CLS; 300617
DR   Wikidata; Q54809354
WW   https://www.celleng-tech.com/ips-cell-lines
WW   https://www.jp2mri.org/gaucher-disease-type-i
CC   From: Cellular Engineering Technologies (CET), Inc.; Coralville; USA.
CC   From: John Paul II Medical Research Institute; Iowa City; USA.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (from parent cell line).
CC   Discontinued: CLS; 300617; true.
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_0R33 ! GM04394
SX   Male
AG   1Y4M
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 14
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