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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's 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
Chemla A., Arena G., Onal G., Walter J., Berenguer-Escuder C., Grossmann D., Grunewald A., Schwamborn J.C., Kruger R.
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 update19-Dec-2024
Version number3