Cellosaurus cell line ICGi046-A (CVCL

Cross-references
Cell line name	ICGi046-A
Synonyms	V2-1
Accession	CVCL_E2V2
Resource Identification Initiative	To cite this cell line use: ICGi046-A (RRID:CVCL_E2V2)
Comments	From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9829; RAF1; Simple; p.Ser259Thr (c.775T>A); ClinVar=VCV000040601; Zygosity=Heterozygous (DOI=10.1134/S1062360423070032).
Disease	Noonan syndrome (NCIt: C34854) Noonan syndrome (ORDO: Orphanet_648)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3-4Y
Category	Induced pluripotent stem cell
Publications	DOI=10.1134/S1062360423070032 Elena Vyacheslavovna Dementyeva, Ekaterina Sergeevna Klimenko, Julia Mikhailovna Minina, Suren Minasovich Zakian, Anna A. Kostareva; Generation of an induced pluripotent stem cell line ICGi046-A of a patient carrying pathogenic p.Ser259Thr variant in RAF1 associated with RASopathy. Russ. J. Dev. Biol. 54 Suppl. 1:S75-S79(2023)
Cell line databases/resources	hPSCreg; ICGi046-A
Biological sample resources	BioSamples; SAMEA114563820
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2