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Cellosaurus UNIPDi002-A (CVCL_RJ95)

[Text version]
Cell line name UNIPDi002-A
Synonyms 304D-hiPSC
Accession CVCL_RJ95
Resource Identification Initiative To cite this cell line use: UNIPDi002-A (RRID:CVCL_RJ95)
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.Arg343Gln (c.1028G>A) (R304Q); ClinVar=VCV000006534; Zygosity=Heterozygous (PubMed=29486400).
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 18Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29486400

Markers:
CSF1PO8,11
D2S133817,18
D3S135816,18
D5S81810,13
D7S82011,12
D8S117914,15
D13S31711
D16S5399,11
D18S5113,16
D19S43315,16.2
D21S1129,30
FGA23,25
TH018,9.3
TPOX8,12
vWA14,16

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Publications

PubMed=29486400; DOI=10.1016/j.scr.2018.02.006
Trevisan M., Barbaro V., Riccetti S., Masi G., Barzon L., Nespeca P., Alvisi G., Di Iorio E., Palu G.
Generation of a transgene-free induced pluripotent stem cells line (UNIPDi002-A) from oral mucosa epithelial stem cells carrying the R304Q mutation in TP63 gene.
Stem Cell Res. 28:149-152(2018)

Cross-references
Cell line databases/resources hPSCreg; UNIPDi002-A
SKIP; SKIP003157
Encyclopedic resources Wikidata; Q54991238
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number11