ID   LCSBi010-A
SY   RHOT1_R450C_clone5_PD
DR   BioSamples; SAMEA112885176
DR   hPSCreg; LCSBi010-A
DR   Wikidata; Q123032934
RX   PubMed=37364399;
CC   From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 21168; RHOT1; Simple; p.Arg450Cys (c.1348C>T); Zygosity=Heterozygous (PubMed=37364399).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 29-06-23; Last updated: 30-01-24; Version: 2
RX   PubMed=37364399; DOI=10.1016/j.scr.2023.103145;
RA   Chemla A., Arena G., Onal G., Walter J., Berenguer-Escuder C.,
RA   Grossmann D., Grunewald A., Schwamborn J.C., Kruger R.;
RT   "Generation of two induced pluripotent stem cell lines and the
RT   corresponding isogenic controls from Parkinson's disease patients
RT   carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C >
RT   T (p.R450C) in the RHOT1 gene encoding Miro1.";
RL   Stem Cell Res. 71:103145-103145(2023).