Cellosaurus cell line HPS0175 (CVCL

Cross-references
Cell line name	HPS0175
Synonyms	A000027#32-1; iPSC Pompe1
Accession	CVCL_T932
Resource Identification Initiative	To cite this cell line use: HPS0175 (RRID:CVCL_T932)
Comments	Population: Japanese. 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.Pro266Ser (c.796C>T); ClinVar=VCV000556117; Zygosity=Heterozygous (PubMed=26199952). Mutation; HGNC; 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_T933 ! HPS0176 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; PMCID=PMC4495721 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)
Cell line collections (Providers)	RCB; HPS0175
Cell line databases/resources	SKIP; SKIP000079 SKIP; SKIP000249
Encyclopedic resources	Wikidata; Q54890341
Entry history
Entry creation	03-Feb-2014
Last entry update	19-Dec-2024
Version number	13