ID   LCSBi010-A
AC   CVCL_C8G5
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; 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 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: 10-04-25; Version: 4
CH   CVCL_C8G6 ! LCSBi010-A-1
CH   CVCL_C8G7 ! LCSBi010-A-2
//
RX   PubMed=37364399; DOI=10.1016/j.scr.2023.103145;
RA   Chemla, Axel
RA   Arena, Giuseppe
RA   Onal, Gizem
RA   Walter, Jonas
RA   Berenguer-Escuder, Clara
RA   Grossmann, Dajana
RA   Grunewald, Anne
RA   Schwamborn, Jens Christian
RA   Kruger, Rejko
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).
//