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Cellosaurus UNIBSi001-A (CVCL_QX79)

[Text version]

Cell line name UNIBSi001-A
Synonyms M016
Accession CVCL_QX79
Resource Identification Initiative To cite this cell line use: UNIBSi001-A (RRID:CVCL_QX79)
Comments From: University of Brescia; Brescia; Italy.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 6224; KCNA5; Simple; p.Asp322His (c.964G>C); ClinVar=VCV000469603; Zygosity=Heterozygous (PubMed=29034891).
Disease Atrial fibrillation (NCIt: C50466)
Familial atrial fibrillation (ORDO: Orphanet_334)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 35Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29034891

Markers:
AmelogeninX,Y
CSF1PO10
D1S165612,16
D2S44111,14
D2S133817,20
D3S135814,17
D5S81811,12
D7S8207,12
D8S117913
D10S124814,15
D12S39122,23
D13S3178,12
D16S5399,11
D18S5112,17
D19S43314,15
D21S1126,31.2
D22S104515
FGA21,22
SE3328.2,32.2
TH019
TPOX9,12
vWA17

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Publications

PubMed=29034891; DOI=10.1016/j.scr.2017.08.009
Mora C., Serzanti M., Giacomelli A., Turco V., Marchina E., Bertini V., Piovani G., Savio G., Refsgaard L., Olesen M.S., Cortellini V., Dell'Era P.
Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation.
Stem Cell Res. 24:29-32(2017)

Cross-references
Cell line databases/resources hPSCreg; UNIBSi001-A
Encyclopedic resources Wikidata; Q54991234
Entry history
Entry creation15-Nov-2017
Last entry update20-May-2021
Version number6