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Cellosaurus GM11661 (CVCL_0H81)

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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; HGNC:4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (Coriell=GM11661).
  • Mutation; HGNC; 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
Richard A. Mulivor, Sharon F. Suchy;
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
Takashi Higuchi, Shiho Kawagoe, Makoto Otsu, Yohta Shimada, Hiroshi Kobayashi, Reimi Hirayama, Koji Eto, Hiroyuki Ida, Toya Ohashi, Hiromitsu Nakauchi, Yoshikatsu Eto;
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 update19-Dec-2024
Version number15