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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
Publications

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)

Cross-references
Cell line databases/resources hPSCreg; MDCi008-A
Biological sample resources BioSamples; SAMEA12276542
Encyclopedic resources Wikidata; Q112930101
Entry history
Entry creation23-Jun-2022
Last entry update30-Jan-2024
Version number5