ID   LCSBi012-A-1
AC   CVCL_D0HK
SY   RHOT1_T610A_clone62.19.37_IsogenicControl
DR   BioSamples; SAMEA112818019
DR   hPSCreg; LCSBi012-A-1
DR   Wikidata; Q123032941
RX   PubMed=37003181;
CC   From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 21168; RHOT1; Simple_corrected; p.Thr610Ala (c.2067A>G); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37003181).
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)
HI   CVCL_D0HJ ! LCSBi012-A
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37003181; DOI=10.1016/j.scr.2023.103085; PMCID=PMC10240566;
RA   Chemla A., Arena G., Saraiva C., Berenguer-Escuder C., Grossmann D.,
RA   Grunewald A., Klein C., Seibler P., 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.1290A > G (p.T351A) or c.2067A
RT   > G (p.T610A) in the RHOT1 gene encoding Miro1.";
RL   Stem Cell Res. 69:103085-103085(2023).
//