ID   INSAi001-A
AC   CVCL_YC29
SY   GD3-1
DR   BioSamples; SAMEA6358480
DR   hPSCreg; INSAi001-A
DR   Wikidata; Q94318164
RX   PubMed=31678773;
CC   From: Instituto Nacional de Saude Ricardo Jorge; Porto; Portugal.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Phe252Ile (c.754T>A) (F213I); ClinVar=VCV000004301; Zygosity=Heterozygous (PubMed=31678773).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=31678773).
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   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 11
//
RX   PubMed=31678773; DOI=10.1016/j.scr.2019.101595;
RA   Duarte, Ana Joana
RA   Ribeiro, Diogo
RA   Santos, Renato
RA   Moreira, Luciana
RA   Braganca, Jose
RA   Amaral, Olga
RT   "Induced pluripotent stem cell line (INSAi001-A) from a Gaucher
RT   disease type 3 patient compound heterozygote for mutations in the GBA1
RT   gene.";
RL   Stem Cell Res. 41:101595-101595(2019).
//