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Cellosaurus LCSBi010-A (CVCL_C8G5)

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Cell line name LCSBi010-A
Synonyms RHOT1_R450C_clone5_PD
Accession CVCL_C8G5
Resource Identification Initiative To cite this cell line use: LCSBi010-A (RRID:CVCL_C8G5)
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; p.Arg450Cys (c.1348C>T); Zygosity=Heterozygous (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 Children:
CVCL_C8G6 (LCSBi010-A-1)CVCL_C8G7 (LCSBi010-A-2)
Sex of cell Female
Age at sampling 54Y
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; LCSBi010-A
Biological sample resources BioSamples; SAMEA112885176
Encyclopedic resources Wikidata; Q123032934
Entry history
Entry creation29-Jun-2023
Last entry update10-Apr-2025
Version number4