Cellosaurus logo
expasy logo

Cellosaurus GM20124 (CVCL_0H82)

[Text version]
Cell line name GM20124
Accession CVCL_0H82
Resource Identification Initiative To cite this cell line use: GM20124 (RRID:CVCL_0H82)
Comments Population: Caucasian.
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; p.Glu176Argfs*45 (c.525delT); ClinVar=VCV000004033; Zygosity=Heterozygous (Coriell=GM20124).
  • Mutation; HGNC; HGNC:4065; GAA; Unexplicit; Ex18del; Zygosity=Heterozygous (Coriell=GM20124).
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_0H83 (ITPD-iPSC)
Sex of cell Male
Age at sampling 4M
Category Finite cell line
Publications

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; GM20124
Cell line databases/resources CLO; CLO_0027715
Encyclopedic resources Wikidata; Q54850807
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number14