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Cellosaurus HHUi003-C (CVCL_C1TA)

[Text version]
Cell line name HHUi003-C
Synonyms A4_W1
Accession CVCL_C1TA
Resource Identification Initiative To cite this cell line use: HHUi003-C (RRID:CVCL_C1TA)
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; 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_C1T9 ! HHUi003-B
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=36137325; DOI=10.1016/j.scr.2022.102920
Steiner T., Zink A., Henke M.-T., Cecchetto G., Buenning M., Rossi A., Schuelke M., Prigione A.
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)

Cross-references
Cell line databases/resources hPSCreg; HHUi003-C
Biological sample resources BioSamples; SAMEA110696886
Encyclopedic resources Wikidata; Q114311615
Entry history
Entry creation22-Sep-2022
Last entry update30-Jan-2024
Version number5