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Cellosaurus LCSBi011-A-1 (CVCL_D0HI)

[Text version]
Cell line name LCSBi011-A-1
Synonyms RHOT1_T351A_clone25.2_IsogenicControl
Accession CVCL_D0HI
Resource Identification Initiative To cite this cell line use: LCSBi011-A-1 (RRID:CVCL_D0HI)
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; 21168; RHOT1; Simple_corrected; p.Thr351Ala (c.1290A>G); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37003181).
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_D0HH (LCSBi011-A)
Sex of cell Male
Age at sampling 65Y
Category Induced pluripotent stem cell
Publications

PubMed=37003181; DOI=10.1016/j.scr.2023.103085; PMCID=PMC10240566
Chemla A., Arena G., Saraiva C., Berenguer-Escuder C., Grossmann D., Grunewald A., Klein C., Seibler P., 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.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; LCSBi011-A-1
Biological sample resources BioSamples; SAMEA112817516
Encyclopedic resources Wikidata; Q123032938
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2