ID   AHMUi001-A
AC   CVCL_C1SF
SY   AHMUMTi002-1
DR   BioSamples; SAMEA110176023
DR   hPSCreg; AHMUi001-A
DR   Wikidata; Q114310539
RX   PubMed=35905669;
CC   From: Anhui Medical University; Anhui; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 7455; MT-ND1; Simple; p.Ser110Asn (m.3635G>A); ClinVar=VCV000065518; Zygosity=Homoplasmic (PubMed=35905669).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84808; Leber hereditary optic atrophy
DI   ORDO; Orphanet_104; Leber hereditary optic neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   22Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35905669; DOI=10.1016/j.scr.2022.102858;
RA   Ji D.-M., Su X., Hu C., Zhang Z.-K., Wang M.-Y., Zou W.-W.,
RA   Shen L.-C., Liu Y.-J., Liang C.-M., Du Y.-N., Liang D., Cao Y.-X.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with Leber's hereditary optic neuropathy carrying a homoplasmic
RT   m.3635G > A mutation in the mitochondrial ND1 gene.";
RL   Stem Cell Res. 63:102858-102858(2022).
//