Cellosaurus logo
expasy logo

Cellosaurus LCSBi012-A (CVCL_D0HJ)

[Text][XML][JSON]
Cell line name LCSBi012-A
Synonyms RHOT1_T610A_clone6_PD
Accession CVCL_D0HJ
Resource Identification Initiative To cite this cell line use: LCSBi012-A (RRID:CVCL_D0HJ)
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.Thr610Ala (c.2067A>G); Zygosity=Heterozygous (PubMed=37003181).
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_D0HK (LCSBi012-A-1)
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=37003181; DOI=10.1016/j.scr.2023.103085; PMCID=PMC10240566
Axel Chemla, Giuseppe Arena, Claudia Saraiva, Clara Berenguer-Escuder, Dajana Grossmann, Anne Grunewald, Christine Klein, Philip Seibler, 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.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1.
Stem Cell Res. 69:103085-103085(2023)

Cross-references
Cell line databases/resources hPSCreg; LCSBi012-A
Biological sample resources BioSamples; SAMEA112817621
Encyclopedic resources Wikidata; Q123032940
Entry history
Entry creation05-Oct-2023
Last entry update10-Apr-2025
Version number4