Cellosaurus cell line PomD-iPSC B03 (CVCL

Cellosaurus PomD-iPSC B03 (CVCL_IM70)

Cross-references
Cell line name	PomD-iPSC B03
Accession	CVCL_IM70
Resource Identification Initiative	To cite this cell line use: PomD-iPSC B03 (RRID:CVCL_IM70)
Comments	Omics: Transcriptomics; 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=Heterozygous (PubMed=21926084). Mutation; HGNC; HGNC:4065; GAA; Simple; c.2040+1G>T; ClinVar=VCV000370998; Zygosity=Heterozygous; Note=Splice donor mutation (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)
Sex of cell	Sex unspecified
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=21926084; DOI=10.1093/hmg/ddr424 Hsiang-Po Huang, Pin-Hsun Chen, Paul Wuh-Liang Hwu, Ching-Yu Chuang, Yin-Hsiu Chien, Lee Stone, Chung-Liang Chien, Li-Tzu Li, Shu-Chuan Chiang, Hsin-Fu Chen, Hong-Nerng Ho ...Show all 13 authors... , Chung-Hsuan Chen, Hung-Chih Kuo; Show fewer authors 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; Q54947749
Gene expression databases	GEO; GSM674581
Entry history
Entry creation	01-Dec-2016
Last entry update	10-Apr-2025
Version number	14