ID   L1-iPS6
AC   CVCL_C6VC
DR   Wikidata; Q117704588
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_C6VB ! L1-iPS1
OI   CVCL_C6VD ! L1-iPS13
SX   Female
AG   25Y
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).
//