ID   TRNDi003-A
AC   CVCL_UL12
SY   HT215A
DR   hPSCreg; TRNDi003-A
DR   Wikidata; Q98133577
RX   PubMed=30640061;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: African; Somali.
CC   Sequence variation: Mutation; HGNC; 9644; PTPN11; Simple; p.Gln510Pro (c.1529A>C); ClinVar=VCV000013344; Zygosity=Heterozygous (PubMed=30640061).
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)
OI   CVCL_UL13 ! TRNDi003-B
SX   Female
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=30640061; DOI=10.1016/j.scr.2018.101374;
RA   Li R., Baskfield A., Lin Y.-S., Beers J.K., Zou J.-H., Liu C.-Y.,
RA   Jaffre F., Roberts A.E., Ottinger E.A., Kontaridis M.I., Zheng W.;
RT   "Generation of an induced pluripotent stem cell line (TRNDi003-A) from
RT   a Noonan syndrome with multiple lentigines (NSML) patient carrying a
RT   p.Q510P mutation in the PTPN11 gene.";
RL   Stem Cell Res. 34:101374-101374(2019).
//