ID   ICGi046-A
AC   CVCL_E2V2
SY   V2-1
DR   BioSamples; SAMEA114563820
DR   hPSCreg; ICGi046-A
RX   DOI=10.1134/S1062360423070032;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9829; RAF1; Simple; p.Ser259Thr (c.775T>A); ClinVar=VCV000040601; Zygosity=Heterozygous (DOI=10.1134/S1062360423070032).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34854; Noonan syndrome
DI   ORDO; Orphanet_648; Noonan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3-4Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   DOI=10.1134/S1062360423070032;
RA   Dementyeva E.V., Klimenko E.S., Minina J.M., Zakian S.M.,
RA   Kostareva A.A.;
RT   "Generation of an induced pluripotent stem cell line ICGi046-A of a
RT   patient carrying pathogenic p.Ser259Thr variant in RAF1 associated
RT   with RASopathy.";
RL   Russ. J. Dev. Biol. 54 Suppl. 1:S75-S79(2023).
//