Cellosaurus logo
expasy logo

Cellosaurus Mt2-6 (CVCL_A4RZ)

[Text][XML][JSON]
Cell line name Mt2-6
Accession CVCL_A4RZ
Resource Identification Initiative To cite this cell line use: Mt2-6 (RRID:CVCL_A4RZ)
Comments 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=Increased level of mutation compared to the parent skin fibroblast (PubMed=22396012).
Disease Mitochondrial diabetes (NCIt: C131859)
Maternally-inherited diabetes and deafness (ORDO: Orphanet_225)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A4RJ (Mt2-fibro)
Sex of cell Female
Age at sampling 46Y
Category Induced pluripotent stem cell
Publications

PubMed=22396012; DOI=10.1007/s00125-012-2508-2
Junji Fujikura, Kazuhiro Nakao, Masakatsu Sone, Michio Noguchi, Eisaku Mori, Masaki Naito, Daisuke Taura, Mariko Harada-Shiba, Ichiro Kishimoto, Akira Watanabe, Isao Asaka ...Show all 13 authors... , Kiminori Hosoda, Kazuwa Nakao; Show fewer authors
Induced pluripotent stem cells generated from diabetic patients with mitochondrial DNA A3243G mutation.
Diabetologia 55:1689-1698(2012)

Cross-references
Cell line databases/resources SKIP; SKIP003002
Encyclopedic resources Wikidata; Q105510204
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6