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Cellosaurus LCSBi009-A-1 (CVCL_C8G4)

[Text version]
Cell line name LCSBi009-A-1
Synonyms RHOT1_R272Q_clone18_IsogenicControl
Accession CVCL_C8G4
Resource Identification Initiative To cite this cell line use: LCSBi009-A-1 (RRID:CVCL_C8G4)
Comments From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
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:21168; RHOT1; Simple_corrected; p.Arg272Gln (c.815G>A); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37364399).
Disease Parkinson disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_C8G3 (LCSBi009-A)
Sex of cell Female
Age at sampling 78Y
Category Induced pluripotent stem cell
Publications

PubMed=37364399; DOI=10.1016/j.scr.2023.103145
Axel Chemla, Giuseppe Arena, Gizem Onal, Jonas Walter, Clara Berenguer-Escuder, Dajana Grossmann, Anne Grunewald, Jens Christian Schwamborn, Rejko Kruger;
Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1.
Stem Cell Res. 71:103145-103145(2023)

Cross-references
Cell line databases/resources hPSCreg; LCSBi009-A-1
Biological sample resources BioSamples; SAMEA112885175
Encyclopedic resources Wikidata; Q123032933
Entry history
Entry creation29-Jun-2023
Last entry update10-Apr-2025
Version number4