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Cellosaurus LOTPD-iPSC (CVCL_0H84)

[Text version]
Cell line name LOTPD-iPSC
Synonyms Late-Onset-Type Pompe Disease-iPSC
Accession CVCL_0H84
Resource Identification Initiative To cite this cell line use: LOTPD-iPSC (RRID:CVCL_0H84)
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 (from parent cell line).
  • Mutation; 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_0H81 (GM11661)
Sex of cell Male
Age at sampling 38Y
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; SKIP000578
Encyclopedic resources Wikidata; Q54902890
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number11