ID   WMUi022-A
AC   CVCL_A5QK
SY   gxl3811724
DR   hPSCreg; WMUi022-A
DR   Wikidata; Q107117484
RX   PubMed=33901818;
CC   From: Wenzhou Medical University; Wenzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 9829; RAF1; Simple; p.Ser257Leu (c.770C>T); ClinVar=VCV000013957; Zygosity=Heterozygous (PubMed=33901818).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C84820; LEOPARD syndrome
DI   ORDO; Orphanet_500; Noonan syndrome with multiple lentigines
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33901818; DOI=10.1016/j.scr.2021.102281;
RA   Guo X.-L., Qian R.-C., Yang L., Chen H.-H., Ding Y.-J., Shan X.-O.,
RA   Chen C.-D., Ni W.-F., Lin J., Chu M.-P.;
RT   "Establishment of an induced pluripotent stem cell line from a Noonan
RT   syndrome patient with the heterozygote mutation p.S257L (c.770C > T)
RT   in RAF1 gene.";
RL   Stem Cell Res. 53:102281-102281(2021).
//