ID   ICSSUi005-A
AC   CVCL_D6NV
SY   iPSCm.3243A>G
DR   BioSamples; SAMEA115117015
DR   hPSCreg; ICSSUi005-A
RX   PubMed=38489977;
CC   From: Institute for Cardiovascular Science of Soochow University; Suzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 7490; MT-TL1; Simple; m.3243A>G; ClinVar=VCV000009589; Zygosity=Heteroplasmic; Note=In 80% of cells (PubMed=38489977).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C130996; Maternal diabetes and deafness syndrome
DI   ORDO; Orphanet_225; Maternally-inherited diabetes and deafness
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38489977; DOI=10.1016/j.scr.2024.103387;
RA   Song M., Chen S.-S., Zhang M.-N., Hu S.-J., Lei W., Yu M.;
RT   "Generation of a human induced pluripotent stem cell line harboring
RT   heteroplasmic m.3243A > G mutation in MT-TL1 gene.";
RL   Stem Cell Res. 77:103387-103387(2024).
//