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Cellosaurus GSD1-hiPSC2 (CVCL_C871)

[Text version]
Cell line name GSD1-hiPSC2
Synonyms GSD.1.H.iPSC.2
Accession CVCL_C871
Resource Identification Initiative To cite this cell line use: GSD1-hiPSC2 (RRID:CVCL_C871)
Comments From: Royan Institute; Theran; Iran.
Population: Iranian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4061; SLC37A4; Simple; c.1124-2A>G; Zygosity=Unspecified; Note=Splice acceptor mutation (PubMed=20821352).
Disease Glycogen storage disease type Ib (NCIt: C122661)
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (ORDO: Orphanet_79259)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C870 ! GSD1-hiPSC1
CVCL_C872 ! GSD1-hiPSC3
CVCL_C873 ! GSD1-hiPSC5
CVCL_C874 ! GSD1-hiPSC6
CVCL_C875 ! GSD1-hiPSC7
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=20821352; DOI=10.1007/s12015-010-9189-3
Ghodsizadeh A., Taei A., Totonchi M., Seifinejad A., Gourabi H., Pournasr B., Aghdami N., Malekzadeh R., Almadani N., Salekdeh G.H., Baharvand H.
Generation of liver disease-specific induced pluripotent stem cells along with efficient differentiation to functional hepatocyte-like cells.
Stem Cell Rev. Rep. 6:622-632(2010)

Cross-references
Cell line collections (Providers) RSCB; RSCB0055
Encyclopedic resources Wikidata; Q54871755
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number13