ID   UNIPDi003-A
AC   CVCL_RJ96
SY   EEC-A-hiPSCs
DR   hPSCreg; UNIPDi003-A
DR   SKIP; SKIP003159
DR   Wikidata; Q54991239
RX   PubMed=29477592;
CC   From: University of Padova; Padova; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:15979; TP63; Simple; p.Arg318His (c.953G>A) (R279H); ClinVar=VCV000006533; Zygosity=Heterozygous (PubMed=29477592).
CC   Derived from site: In situ; Oral cavity, oral mucosa; UBERON=UBERON_0003729.
CC   Cell type: Epithelial stem cell; CL=CL_0000036.
ST   Source(s): PubMed=29477592
ST   CSF1PO: 10,12
ST   D13S317: 11,12
ST   D16S539: 11,13
ST   D18S51: 19,20
ST   D19S433: 13,15.2
ST   D21S11: 29,30
ST   D2S1338: 16,18
ST   D3S1358: 17,18
ST   D5S818: 12
ST   D7S820: 10,11
ST   D8S1179: 14,15
ST   FGA: 20,22
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 15,19
DI   NCIt; C148261; Ectrodactyly-ectodermal dysplasia-cleft syndrome
DI   ORDO; Orphanet_1071; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 12
//
RX   PubMed=29477592; DOI=10.1016/j.scr.2018.02.008;
RA   Trevisan M., Di Iorio E., Masi G., Riccetti S., Barzon L., Alvisi G.,
RA   Caenazzo L., Barbaro V., Palu G.;
RT   "Induced pluripotent stem cells line (UNIPDi003-A) from a patient
RT   affected by EEC syndrome carrying the R279H mutation in TP63 gene.";
RL   Stem Cell Res. 28:141-144(2018).
//