Cellosaurus cell line HIMRi007-A (CVCL

Cross-references
Cell line name	HIMRi007-A
Synonyms	GAA c.-32-13T>G, c.1716C>G hiPSC
Accession	CVCL_D6P2
Resource Identification Initiative	To cite this cell line use: HIMRi007-A (RRID:CVCL_D6P2)
Comments	From: Heimer Institute for Muscle Research; Bochum; Germany. Population: Caucasian. 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; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (PubMed=38896971). Mutation; HGNC; HGNC:4065; GAA; Simple; p.His572Gln (c.1716C>G); ClinVar=VCV000929167; Zygosity=Heterozygous (PubMed=38896971).
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	Female
Age at sampling	22Y
Category	Induced pluripotent stem cell
Publications	PubMed=38896971; DOI=10.1016/j.scr.2024.103459 Volke L., Daya N.M., Doring K., Rohm M., Athamneh M.J., Zaehres H., Roos A., Guttsches A.-K., Mavrommatis L., Vorgerd M. Generation of two induced pluripotent stem cell lines (HIMRi006-A and HIMRi007-A) from Pompe patients with infantile and late disease onset. Stem Cell Res. 79:103459-103459(2024)
Cell line databases/resources	hPSCreg; HIMRi007-A
Biological sample resources	BioSamples; SAMEA114760681
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2