Cellosaurus cell line ICSSUi005-A (CVCL

Cross-references
Cell line name	ICSSUi005-A
Synonyms	iPSCm.3243A>G
Accession	CVCL_D6NV
Resource Identification Initiative	To cite this cell line use: ICSSUi005-A (RRID:CVCL_D6NV)
Comments	From: Institute for Cardiovascular Science of Soochow University; Suzhou; China. Population: Chinese. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:7490; MT-TL1; Simple; m.3243A>G; ClinVar=VCV000009589; Zygosity=Heteroplasmic; Note=In 80% of cells (PubMed=38489977).
Disease	Maternal diabetes and deafness syndrome (NCIt: C130996) Maternally-inherited diabetes and deafness (ORDO: Orphanet_225)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	19Y
Category	Induced pluripotent stem cell
Publications	PubMed=38489977; DOI=10.1016/j.scr.2024.103387 Min Song, Shuang-Shuang Chen, Man-Na Zhang, Shi-Jun Hu, Wei Lei, Miao Yu; Generation of a human induced pluripotent stem cell line harboring heteroplasmic m.3243A > G mutation in MT-TL1 gene. Stem Cell Res. 77:103387-103387(2024)
Cell line databases/resources	hPSCreg; ICSSUi005-A
Biological sample resources	BioSamples; SAMEA115117015
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2