Cellosaurus cell line GM04912 iPSC (CVCL

Cross-references
Cell line name	GM04912 iPSC
Synonyms	Pompe 2
Accession	CVCL_UD95
Resource Identification Initiative	To cite this cell line use: GM04912 iPSC (RRID:CVCL_UD95)
Comments	Population: African American. 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.Trp481Glyfs*39 (c.1441delT); ClinVar=VCV000972761; Zygosity=Heterozygous (PubMed=25488666). Mutation; HGNC; HGNC:4065; GAA; Simple; p.Trp746Ter (c.2237G>A); ClinVar=VCV000280063; Zygosity=Heterozygous (PubMed=25488666).
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_F601 (GM04912)
Sex of cell	Male
Age at sampling	4M
Category	Induced pluripotent stem cell
Publications	PubMed=25488666; DOI=10.1074/jbc.M114.628628; PMCID=PMC4317045 Kunil K. Raval, Ran Tao, Brent E. White, Willem J. De Lange, Chad H. Koonce, Jun-Ying Yu, Priya S. Kishnani, James Alexander Thomson, Deane F. Mosher, John Carter Ralphe, Timothy J. Kamp; Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes. J. Biol. Chem. 290:3121-3136(2015)
Encyclopedic resources	Wikidata; Q93786874
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	10