Cellosaurus cell line HHUi003-B (CVCL

Cross-references
Cell line name	HHUi003-B
Synonyms	A4_C1
Accession	CVCL_C1T9
Resource Identification Initiative	To cite this cell line use: HHUi003-B (RRID:CVCL_C1T9)
Comments	From: Universitatsklinikum Dusseldorf, Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; 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.Leu220Pro (m.9185T>C); ClinVar=VCV000009647; Zygosity=Homoplasmic (PubMed=36137325).
Disease	Leigh disease (NCIt: C84814) Leigh syndrome (ORDO: Orphanet_506)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_C1T8 ! HHUi003-A CVCL_C1TA ! HHUi003-C
Sex of cell	Male
Age at sampling	4Y
Category	Induced pluripotent stem cell
Publications	PubMed=36137325; DOI=10.1016/j.scr.2022.102920 Tabea Steiner, Annika Zink, Marie-Therese Henke, Giulia Cecchetto, Miriam Buenning, Andrea Rossi, Markus Schuelke, Alessandro Prigione; RNA-based generation of iPSCs from a boy carrying the mutation m.9185 T>C in the mitochondrial gene MT-ATP6 and from his healthy mother. Stem Cell Res. 64:102920-102920(2022)
Cell line databases/resources	hPSCreg; HHUi003-B
Biological sample resources	BioSamples; SAMEA110696885
Encyclopedic resources	Wikidata; Q114311612
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	6