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Cellosaurus ITPD-iPSC (CVCL_0H83)

[Text version]
Cell line name ITPD-iPSC
Synonyms Infantile-Type Pompe Disease-iPSC
Accession CVCL_0H83
Resource Identification Initiative To cite this cell line use: ITPD-iPSC (RRID:CVCL_0H83)
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 (from parent cell line).
  • Mutation; HGNC; HGNC:4065; GAA; Unexplicit; Ex18del; Zygosity=Heterozygous (from parent cell line).
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 Parent: CVCL_0H82 (GM20124)
Sex of cell Male
Age at sampling 4M
Category Induced pluripotent stem cell
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 databases/resources SKIP; SKIP000577
Encyclopedic resources Wikidata; Q54898370
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number12