ID   GD2-2627
AC   CVCL_F4XN
RX   PubMed=25822147;
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Gly364Arg (c.1090G>A) (G325R); ClinVar=VCV000004318; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Cys381Gly (c.1141T>G) (C342G); ClinVar=VCV000004319; Zygosity=Heterozygous (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; C227666; Gaucher Disease Type 2
DI   ORDO; Orphanet_77260; Gaucher disease type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0R32 ! GM02627
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 22-10-26; Last updated: 22-10-26; Version: 1
//
RX   PubMed=25822147; DOI=10.1371/journal.pone.0118771; PMCID=PMC4378893;
RA   Sun, Ying
RA   Florer, Jane
RA   Mayhew, Christopher N.
RA   Jia, Zhanfeng
RA   Zhao, Zhiying
RA   Xu, Kui
RA   Ran, Huimin
RA   Liou, Benjamin
RA   Zhang, Wujuan
RA   Setchell, Kenneth D.R.
RA   Gu, Jianguo
RA   Grabowski, Gregory A.
RT   "Properties of neurons derived from induced pluripotent stem cells of
RT   Gaucher disease type 2 patient fibroblasts: potential role in
RT   neuropathology.";
RL   PLoS ONE 10:e0118771-e0118771(2015).
//