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Cellosaurus GM20123 (CVCL_1L21)

[Text version]
Cell line name GM20123
Accession CVCL_1L21
Resource Identification Initiative To cite this cell line use: GM20123 (RRID:CVCL_1L21)
Comments Population: Caucasian; Dutch.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4065; GAA; Unexplicit; Ex18del; Zygosity=Heterozygous (Coriell=GM20123).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UD94 (GM20123 iPSC)
Sex of cell Female
Age at sampling Adult
Category Finite cell line
Publications

PubMed=25488666; DOI=10.1074/jbc.M114.628628; PMCID=PMC4317045
Raval K.K., Tao R., White B.E., De Lange W.J., Koonce C.H., Yu J.-Y., Kishnani P.S., Thomson J.A., Mosher D.F., Ralphe J.C., Kamp T.J.
Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.
J. Biol. Chem. 290:3121-3136(2015)

Cross-references
Cell line collections (Providers) Coriell; GM20123
Cell line databases/resources CLO; CLO_0027718
Encyclopedic resources Wikidata; Q54850806
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number13