ID   GSD1a patient 1 line 3
AC   CVCL_WV76
SY   GSD patient 1 line 3
DR   Wikidata; Q93935215
RX   PubMed=20739751;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4056; G6PC1; Simple; p.Gly222Arg (c.666G>C) (G743C); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 4056; G6PC1; Simple; p.Gln347Ter (c.1039C>T) (C1118T); ClinVar=VCV000012000; Zygosity=Heterozygous (from parent cell line).
CC   Caution: While PubMed=20739751 does not specifically indicates that this cell line is derived from Coriell GM00574, the patient description is identical.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C162398; Glycogen storage disease type Ia
DI   ORDO; Orphanet_79258; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_V389 ! GM00574
SX   Male
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 11
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RX   PubMed=20739751; DOI=10.1172/JCI43122; PMCID=PMC2929734;
RA   Rashid S.T., Corbineau S., Hannan N., Marciniak S.J., Miranda E.,
RA   Alexander G., Huang-Doran I., Griffin J.L., Ahrlund-Richter L.,
RA   Skepper J., Semple R., Weber A., Lomas D.A., Vallier L.;
RT   "Modeling inherited metabolic disorders of the liver using human
RT   induced pluripotent stem cells.";
RL   J. Clin. Invest. 120:3127-3136(2010).
//