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Cellosaurus GSD1a patient 1 line 1 (CVCL_WV74)

[Text version]
Cell line name GSD1a patient 1 line 1
Synonyms GSD patient 1 line 1
Accession CVCL_WV74
Resource Identification Initiative To cite this cell line use: GSD1a patient 1 line 1 (RRID:CVCL_WV74)
Comments Population: Caucasian.
Caution: While PubMed=20739751 does not specifically indicates that this cell line is derived from Coriell GM00574, the patient description is identical.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4056; G6PC1; Simple; p.Gly222Arg (c.666G>C) (G743C); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 4056; G6PC1; Simple; p.Gln347Ter (c.1039C>T) (C1118T); ClinVar=VCV000012000; Zygosity=Heterozygous (from parent cell line).
Disease Glycogen storage disease type Ia (NCIt: C162398)
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (ORDO: Orphanet_79258)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_V389 (GM00574)
Sex of cell Male
Age at sampling 25Y
Category Induced pluripotent stem cell
Publications

PubMed=20739751; DOI=10.1172/JCI43122; PMCID=PMC2929734
Rashid S.T., Corbineau S., Hannan N., Marciniak S.J., Miranda E., Alexander G., Huang-Doran I., Griffin J.L., Ahrlund-Richter L., Skepper J., Semple R., Weber A., Lomas D.A., Vallier L.
Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells.
J. Clin. Invest. 120:3127-3136(2010)

Cross-references
Encyclopedic resources Wikidata; Q93935212
Entry history
Entry creation05-Jul-2019
Last entry update29-Jun-2023
Version number11