Cellosaurus cell line AHMUi001-A (CVCL

Cross-references
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; 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
Publications	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 creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5