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Cellosaurus HPS0176 (CVCL_T933)

[Text version]
Cell line name HPS0176
Synonyms A000027#33-1; iPSC Pompe2
Accession CVCL_T933
Resource Identification Initiative To cite this cell line use: HPS0176 (RRID:CVCL_T933)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4065; GAA; Simple; p.Pro266Ser (c.796C>T); ClinVar=VCV000556117; Zygosity=Heterozygous (PubMed=26199952).
  • Mutation; HGNC; 4065; GAA; Simple; p.Met439Lys (c.1316T>A); ClinVar=VCV000371305; Zygosity=Heterozygous (PubMed=26199952).
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)
Originate from same individual CVCL_T932 ! HPS0175
CVCL_T934 ! HPS0177
Sex of cell Female
Age at sampling 1-9Y
Category Induced pluripotent stem cell
Publications

PubMed=26199952; DOI=10.1038/mtm.2015.23
Sato Y., Kobayashi H., Higuchi T., Shimada Y., Era T., Kimura S., Eto Y., Ida H., Ohashi T.
Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient.
Mol. Ther. Methods Clin. Dev. 2:15023-15023(2015)

Cross-references
Cell line collections (Providers) RCB; HPS0176
Cell line databases/resources SKIP; SKIP000080
SKIP; SKIP000250
Encyclopedic resources Wikidata; Q54890342
Entry history
Entry creation03-Feb-2014
Last entry update29-Jun-2023
Version number12