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Cellosaurus ITPD-iPSC (CVCL_0H83)

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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
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 databases/resources SKIP; SKIP000577
Encyclopedic resources Wikidata; Q54898370
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number12