Cellosaurus cell line MDCi008-A (CVCL

Cross-references
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; 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 Carmen Lorenz, Annika Zink, Marie-Therese Henke, Selma Staege, Barbara Mlody, Miriam Bunning, Erich E. Wanker, Sebastian Diecke, Markus Schuelke, Alessandro Prigione; 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
Biological sample resources	BioSamples; SAMEA12276542
Encyclopedic resources	Wikidata; Q112930101
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6