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Cellosaurus GM11661 (CVCL_0H81)

[Text version]
Cell line name GM11661
Accession CVCL_0H81
Resource Identification Initiative To cite this cell line use: GM11661 (RRID:CVCL_0H81)
Comments Population: Caucasian; Italian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (Coriell=GM11661).
  • Mutation; HGNC; 4065; GAA; Unexplicit; Ex18del; Zygosity=Heterozygous (Coriell=GM11661).
Disease Glycogen storage disease type II (NCIt: C84734)
Glycogen storage disease due to acid maltase deficiency (ORDO: Orphanet_365)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_0H84 (LOTPD-iPSC)
Sex of cell Male
Age at sampling 38Y
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=24642446; DOI=10.1016/j.ymgme.2014.02.012
Higuchi T., Kawagoe S., Otsu M., Shimada Y., Kobayashi H., Hirayama R., Eto K., Ida H., Ohashi T., Nakauchi H., Eto Y.
The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-alpha-glucosidase in Pompe's iPSCs.
Mol. Genet. Metab. 112:44-48(2014)

Cross-references
Cell line collections (Providers) Coriell; GM11661
Cell line databases/resources CLO; CLO_0021330
Encyclopedic resources Wikidata; Q54845213
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number14