Cellosaurus cell line ICGi026-A (CVCL

Cellosaurus ICGi026-A (CVCL_A1MJ)

Cross-references
Cell line name	ICGi026-A
Accession	CVCL_A1MJ
Resource Identification Initiative	To cite this cell line use: ICGi026-A (RRID:CVCL_A1MJ)
Comments	From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia. Population: Caucasian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[27]; ClinVar=VCV000009972; Zygosity=Mosaic (PubMed=33189043). Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[60]; ClinVar=VCV000009972; Zygosity=Mosaic (PubMed=33189043). Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[110]; ClinVar=VCV000009972; Zygosity=Mosaic (PubMed=33189043). Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[410]; ClinVar=VCV000009972; Zygosity=Mosaic (PubMed=33189043).
Disease	Fragile X syndrome (NCIt: C84717) Fragile X syndrome (ORDO: Orphanet_908)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	9Y
Category	Induced pluripotent stem cell
Publications	PubMed=33189043; DOI=10.1016/j.scr.2020.102070 Maria Mikhailovna Gridina, Polina A. Orlova, Julia Mikhailovna Minina, Ekaterina M. Shitik, Natalya A. Lemskaya, Irina V. Grishchenko, Alexander A. Dolskiy, Asia R. Shorina, Yulia V. Maksimova, Dmitry V. Yudkin, Oleg Leonidovich Serov; Establishment of an induced pluripotent stem cell line (ICGi026-A) from peripheral blood mononuclear cells of a patient with fragile X syndrome. Stem Cell Res. 49:102070-102070(2020)
Cell line databases/resources	hPSCreg; ICGi026-A
Biological sample resources	BioSamples; SAMEA7484326
Encyclopedic resources	Wikidata; Q102114200
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	6