ID   UMGi014-C-17
AC   CVCL_D0QM
SY   isWT1-MRAS-G23V.G2; UMGi014-C-17 clone G2
DR   hPSCreg; UMGi014-C-17
DR   Wikidata; Q123033740
RX   PubMed=37141804;
CC   From: University Medical Center Goettingen; Goettingen; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7227; MRAS; Simple_edited; p.Gly23Val (c.68G>T); ClinVar=VCV000635781; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37141804).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34854; Noonan syndrome
DI   ORDO; Orphanet_648; Noonan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A4ZE ! UMGi014-C
SX   Male
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37141804; DOI=10.1016/j.scr.2023.103108;
RA   Busley A.V., Cyganek L.;
RT   "Generation of a genetically-modified induced pluripotent stem cell
RT   line harboring a Noonan syndrome-associated gene variant MRAS
RT   p.G23V.";
RL   Stem Cell Res. 69:103108-103108(2023).
//