Cellosaurus cell line PomD-iPSC A17 (CVCL

Cross-references
Cell line name	PomD-iPSC A17
Accession	CVCL_IM68
Resource Identification Initiative	To cite this cell line use: PomD-iPSC A17 (RRID:CVCL_IM68)
Comments	Omics: Transcriptome analysis by microarray. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4065; GAA; Simple; p.Asp645Glu (c.1935C>A); ClinVar=VCV000004029; Zygosity=Homozygous (PubMed=21926084).
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_IM67 ! PomD-iPSC A10 CVCL_IM69 ! PomD-iPSC A25
Sex of cell	Sex unspecified
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=21926084; DOI=10.1093/hmg/ddr424 Huang H.-P., Chen P.-H., Hwu W.-L., Chuang C.-Y., Chien Y.-H., Stone L., Chien C.-L., Li L.-T., Chiang S.-C., Chen H.-F., Ho H.-N., Chen C.-H., Kuo H.-C. Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification. Hum. Mol. Genet. 20:4851-4864(2011)
Encyclopedic resources	Wikidata; Q54947747
Gene expression databases	GEO; GSM674580
Entry history
Entry creation	01-Dec-2016
Last entry update	19-Dec-2024
Version number	12