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Cellosaurus MDCi008-A (CVCL_C0HE)

[Text version]
Cell line name MDCi008-A
Synonyms 8993-B12; iPSC_B12
Accession CVCL_C0HE
Resource Identification Initiative To cite this cell line use: MDCi008-A (RRID:CVCL_C0HE)
Comments From: Max Delbruck Center Berlin Buch; Berlin; Germany.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7414; MT-ATP6; Simple; p.Leu156Pro (m.8993T>C); ClinVar=VCV000009642; Zygosity=Homoplasmic (PubMed=35279592).
Disease Leigh disease (NCIt: C84814)
Leigh syndrome (ORDO: Orphanet_506)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Induced pluripotent stem cell

PubMed=35279592; DOI=10.1016/j.scr.2022.102742
Lorenz C., Zink A., Henke M.T., Staege S., Mlody B., Bunning M., Wanker E.E., Diecke S., Schuelke M., Prigione A.
Generation of four iPSC lines from four patients with Leigh syndrome carrying homoplasmic mutations m.8993T > G or m.8993T > C in the mitochondrial gene MT-ATP6.
Stem Cell Res. 61:102742-102742(2022)

Cell line databases/resources hPSCreg; MDCi008-A
Encyclopedic resources Wikidata; Q112930101
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4