ID   GD-iPS3
AC   CVCL_C949
SY   GD-IPS3
DR   ISCR; 25
DR   Wikidata; Q54835523
RX   Patent=US20110151447;
RX   PubMed=18691744;
CC   From: Children's Hospital Boston; Boston; USA.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Leu29Alafs*18 (c.84dupG) (c.84_85insG) (84GG); ClinVar=VCV000004302; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; 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; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_8515 ! GM00852
SX   Male
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 21
//
RX   Patent=US20110151447;
RA   Park I.-H., Daley G.Q., Agarwal S., Lerou P.H.;
RT   "Method to produce induced pluripotent stem (iPS) cells from
RT   non-embryonic human cells.";
RL   Patent number US20110151447, 23-Jun-2011.
//
RX   PubMed=18691744; DOI=10.1016/j.cell.2008.07.041;
RA   Park I.-H., Arora N., Huo H.-G., Maherali N., Ahfeldt T., Shimamura A.,
RA   Lensch M.W., Cowan C.A., Hochedlinger K., Daley G.Q.;
RT   "Disease-specific induced pluripotent stem cells.";
RL   Cell 134:877-886(2008).
//