ID   L2-iPS18
AC   CVCL_C6VG
DR   Wikidata; Q117704590
RX   PubMed=20535210;
CC   Sequence variation: Mutation; HGNC; HGNC:9644; PTPN11; Simple; p.Thr468Met (c.1403C>T); ClinVar=VCV000013331; Zygosity=Heterozygous (PubMed=20535210).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84820; LEOPARD syndrome
DI   ORDO; Orphanet_500; Noonan syndrome with multiple lentigines
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C6VE ! L2-iPS6
OI   CVCL_C6VF ! L2-iPS16
SX   Male
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=20535210; DOI=10.1038/nature09005; PMCID=PMC2885001;
RA   Carvajal-Vergara X., Sevilla A., D'Souza S.L., Ang Y.-S., Schaniel C.,
RA   Lee D.-F., Yang L., Kaplan A.D., Adler E.D., Rozov R., Ge Y., Cohen N.,
RA   Edelmann L.J., Chang B., Waghray A., Su J., Pardo S.,
RA   Lichtenbelt K.D., Tartaglia M., Gelb B.D., Lemischka I.R.;
RT   "Patient-specific induced pluripotent stem-cell-derived models of
RT   LEOPARD syndrome.";
RL   Nature 465:808-812(2010).
//