ID   iPSc-GD-A8
AC   CVCL_IN10
SY   GD iPSC A8; Gaucher iPSC-A8; A8
DR   GEO; GSM1012130
DR   Wikidata; Q54898224
RX   PubMed=23118351;
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Gly241Arg (c.721G>A) (G202R); ClinVar=VCV000093459; Zygosity=Heterozygous (PubMed=23118351).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=23118351).
CC   Omics: Transcriptomics; Microarray.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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)
OI   CVCL_IN11 ! iPSc-GD-C21
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 10-04-25; Version: 17
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RX   PubMed=23118351; DOI=10.1093/hmg/dds471;
RA   Tiscornia G., Vivas E.L., Matalonga L., Berniakovich I.,
RA   Barragan Monasterio M., Eguizabal Argaiz C., Gort L., Gonzalez F.,
RA   Ortiz Mellet C., Garcia-Fernandez J.M., Ribes A., Veiga A.,
RA   Izpisua Belmonte J.C.;
RT   "Neuronopathic Gaucher's disease: induced pluripotent stem cells for
RT   disease modelling and testing chaperone activity of small compounds.";
RL   Hum. Mol. Genet. 22:633-645(2013).
//