ID   MRIi025-A
AC   CVCL_A5FP
SY   Noonan 3a
DR   BioSamples; SAMEA8093241
DR   hPSCreg; MRIi025-A
DR   Wikidata; Q107116395
RX   PubMed=34988410;
CC   From: Klinikum rechts der Isar, Technical University of Munich; Munich; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9644; PTPN11; Simple; p.Asn308Ser (c.923A>G); ClinVar=VCV000013327; Zygosity=Heterozygous (PubMed=34988410).
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   2Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=34988410; DOI=10.1016/j.isci.2021.103596; PMCID=PMC8704485;
RA   Meier A.B., Raj Murthi S., Rawat H., Toepfer C.N., Santamaria G.,
RA   Schmid M., Mastantuono E., Schwarzmayr T., Berutti R., Cleuziou J.,
RA   Ewert P., Gorlach A., Klingel K., Laugwitz K.-L., Seidman C.E.,
RA   Seidman J.G., Moretti A., Wolf C.M.;
RT   "Cell cycle defects underlie childhood-onset cardiomyopathy associated
RT   with Noonan syndrome.";
RL   iScience 25:103596.1-103596.18(2022).
//