ID   UNIPDi002-A
AC   CVCL_RJ95
SY   304D-hiPSC
DR   hPSCreg; UNIPDi002-A
DR   SKIP; SKIP003157
DR   Wikidata; Q54991238
RX   PubMed=29486400;
CC   From: University of Padova; Padova; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 15979; TP63; Simple; p.Arg343Gln (c.1028G>A) (R304Q); ClinVar=VCV000006534; Zygosity=Heterozygous (PubMed=29486400).
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=29486400
ST   CSF1PO: 8,11
ST   D13S317: 11
ST   D16S539: 9,11
ST   D18S51: 13,16
ST   D19S433: 15,16.2
ST   D21S11: 29,30
ST   D2S1338: 17,18
ST   D3S1358: 16,18
ST   D5S818: 10,13
ST   D7S820: 11,12
ST   D8S1179: 14,15
ST   FGA: 23,25
ST   TH01: 8,9.3
ST   TPOX: 8,12
ST   vWA: 14,16
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   18Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 11
//
RX   PubMed=29486400; DOI=10.1016/j.scr.2018.02.006;
RA   Trevisan M., Barbaro V., Riccetti S., Masi G., Barzon L., Nespeca P.,
RA   Alvisi G., Di Iorio E., Palu G.;
RT   "Generation of a transgene-free induced pluripotent stem cells line
RT   (UNIPDi002-A) from oral mucosa epithelial stem cells carrying the
RT   R304Q mutation in TP63 gene.";
RL   Stem Cell Res. 28:149-152(2018).
//