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Cellosaurus HHUi003-A (CVCL_C1T8)

[Text version]
Cell line name HHUi003-A
Synonyms A4_M1
Accession CVCL_C1T8
Resource Identification Initiative To cite this cell line use: HHUi003-A (RRID:CVCL_C1T8)
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 (from autologous cell lines HHUi003-A; HHUi003-B).
Disease Leigh disease (NCIt: C84814)
Leigh syndrome (ORDO: Orphanet_506)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C1T9 ! HHUi003-B
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; HHUi003-A
Encyclopedic resources Wikidata; Q114311609
Entry history
Entry creation22-Sep-2022
Last entry update02-May-2024
Version number5