ID   HIHTFi001-C
AC   CVCL_A0ZN
SY   RHOT1 K572R
DR   hPSCreg; HIHTFi001-C
DR   Wikidata; Q108820470
RX   PubMed=34359002;
CC   From: Hertie-Institut fur Klinische Hirnforschung; Tubingen; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:21168; RHOT1; Simple_edited; p.Lys572Arg (c.1714_1716AAA>CGG); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34359002).
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)
HI   CVCL_A4ML ! ID 16423 iPSC
SX   Female
AG   77Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 10-04-25; Version: 7
//
RX   PubMed=34359002; DOI=10.1016/j.scr.2021.102469;
RA   Schwarz L., Casadei N., Fitzgerald J.C.;
RT   "Generation of R272Q, S156A and K572R RHOT1/Miro1 point mutations in
RT   iPSCs from a healthy individual using FACS-assisted CRISPR/Cas9
RT   genome editing.";
RL   Stem Cell Res. 55:102469-102469(2021).
//