ID   MHRCCGi001-A
AC   CVCL_D0I7
SY   P1SH
DR   BioSamples; SAMEA112366444
DR   hPSCreg; MHRCCGi001-A
DR   Wikidata; Q123033043
RX   DOI=10.1192/j.eurpsy.2024.1592;
CC   From: Laboratory Clinical Genetics, Mental Health Research Center; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11042; SLC6A1; Simple; p.Arg211Cys (c.631C>T); ClinVar=VCV001714623; Zygosity=Heterozygous; Note=De novo mutation (DOI=10.1192/j.eurpsy.2024.1592).
CC   Omics: Genomics; Whole exome sequencing.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3362; Schizophrenia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-04-25; Version: 4
//
RX   DOI=10.1192/j.eurpsy.2024.1592;
RA   Mikhailova V., Kondratyev N.V., Alfimova M.V., Kaleda V.G.,
RA   Lezheiko T.V., Ublinsky M.V., Ushakov V., Lebedeva I., Galiakberova A.,
RA   Artyuhov A.S., Dashinimaev E.B., Golimbet V.E.;
RT   "The SLC6A1 mutation schizophrenia case - a comprehensive case study
RT   With iPSC generation.";
RL   Eur. Psychiatry 67 Suppl. 1:S764-S765(2024).
//