Cellosaurus logo
expasy logo

Cellosaurus AHMUi001-A (CVCL_C1SF)

[Text version]
Cell line name AHMUi001-A
Synonyms AHMUMTi002-1
Accession CVCL_C1SF
Resource Identification Initiative To cite this cell line use: AHMUi001-A (RRID:CVCL_C1SF)
Comments From: Anhui Medical University; Anhui; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7455; MT-ND1; Simple; p.Ser110Asn (m.3635G>A); ClinVar=VCV000065518; Zygosity=Homoplasmic (PubMed=35905669).
Disease Leber hereditary optic atrophy (NCIt: C84808)
Leber hereditary optic neuropathy (ORDO: Orphanet_104)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 22Y
Category Induced pluripotent stem cell

PubMed=35905669; DOI=10.1016/j.scr.2022.102858
Ji D.-M., Su X., Hu C., Zhang Z.-K., Wang M.-Y., Zou W.-W., Shen L.-C., Liu Y.-J., Liang C.-M., Du Y.-N., Liang D., Cao Y.-X.
Generation of an induced pluripotent stem cell line from a patient with Leber's hereditary optic neuropathy carrying a homoplasmic m.3635G > A mutation in the mitochondrial ND1 gene.
Stem Cell Res. 63:102858-102858(2022)

Cell line databases/resources hPSCreg; AHMUi001-A
Biological sample resources BioSamples; SAMEA110176023
Encyclopedic resources Wikidata; Q114310539
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4