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: Deep exome analysis. 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 Mikhailova V., Kondratyev N.V., Alfimova M.V., Kaleda V.G., Lezheiko T.V., Ublinsky M.V., Ushakov V., Lebedeva I., Galiakberova A., Artyuhov A.S., Dashinimaev E.B., Golimbet V.E. 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	19-Dec-2024
Version number	3