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Cellosaurus UNIPDi003-A (CVCL_RJ96)

[Text version]
Cell line name UNIPDi003-A
Synonyms EEC-A-hiPSCs
Accession CVCL_RJ96
Resource Identification Initiative To cite this cell line use: UNIPDi003-A (RRID:CVCL_RJ96)
Comments From: University of Padova; Padova; Italy.
Population: Caucasian.
Derived from site: In situ; Oral cavity, oral mucosa; UBERON=UBERON_0003729.
Cell type: Epithelial stem cell; CL=CL_0000036.
Sequence variations
  • Mutation; HGNC; 15979; TP63; Simple; p.Arg318His (c.953G>A) (R279H); ClinVar=VCV000006533; Zygosity=Heterozygous (PubMed=29477592).
Disease Ectrodactyly-ectodermal dysplasia-cleft syndrome (NCIt: C148261)
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (ORDO: Orphanet_1071)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29477592

Markers:
CSF1PO10,12
D2S133816,18
D3S135817,18
D5S81812
D7S82010,11
D8S117914,15
D13S31711,12
D16S53911,13
D18S5119,20
D19S43313,15.2
D21S1129,30
FGA20,22
TH017,9
TPOX8,11
vWA15,19

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Publications

PubMed=29477592; DOI=10.1016/j.scr.2018.02.008
Trevisan M., Di Iorio E., Masi G., Riccetti S., Barzon L., Alvisi G., Caenazzo L., Barbaro V., Palu G.
Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene.
Stem Cell Res. 28:141-144(2018)

Cross-references
Cell line databases/resources hPSCreg; UNIPDi003-A
SKIP; SKIP003159
Encyclopedic resources Wikidata; Q54991239
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number11