Cellosaurus cell line MHRCCGi001-A (CVCL

Cross-references
Cell line name	MHRCCGi001-A
Synonyms	P1SH
Accession	CVCL_D0I7
Resource Identification Initiative	To cite this cell line use: MHRCCGi001-A (RRID:CVCL_D0I7)
Comments	From: Laboratory Clinical Genetics, Mental Health Research Center; Moscow; Russia. Population: Caucasian. Omics: Genomics; Whole exome sequencing. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	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).
Disease	Schizophrenia (NCIt: C3362)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Category	Induced pluripotent stem cell
Publications	DOI=10.1192/j.eurpsy.2024.1592 Vera Mikhailova, Nikolay V. Kondratyev, Margarita V. Alfimova, Vasilii Glebovich Kaleda, Tatyana V. Lezheiko, Maksim V. Ublinsky, Vadim Ushakov, Irina Lebedeva, Adelya Galiakberova, Alexander S. Artyuhov, Erdem B. Dashinimaev, Vera E. Golimbet; The SLC6A1 mutation schizophrenia case - a comprehensive case study With iPSC generation. Eur. Psychiatry 67 Suppl. 1:S764-S765(2024)
Cell line databases/resources	hPSCreg; MHRCCGi001-A
Biological sample resources	BioSamples; SAMEA112366444
Encyclopedic resources	Wikidata; Q123033043
Entry history
Entry creation	05-Oct-2023
Last entry update	10-Apr-2025
Version number	4