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Cellosaurus EURACi003-A (CVCL_VE40)

[Text version]
Cell line name EURACi003-A
Synonyms N1CAV3
Accession CVCL_VE40
Resource Identification Initiative To cite this cell line use: EURACi003-A (RRID:CVCL_VE40)
Comments From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1529; CAV3; Simple; p.Thr78Lys (c.233C>A); ClinVar=VCV000132978; Zygosity=Heterozygous (PubMed=29304398).
Disease HyperCKmia (NCIt: C148327)
Rippling muscle disease 2 (NCIt: C148325)
Isolated asymptomatic elevation of creatine phosphokinase (ORDO: Orphanet_206599)
Rippling muscle disease (ORDO: Orphanet_97238)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 43Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29304398

Markers:
AmelogeninX
CSF1PO11,13
D1S165615,15.3
D2S133820,24
D3S135815,18
D5S81811,12
D6S104312,18
D7S8208,10
D8S117913,15
D12S39120,25
D13S31711,14
D16S53910,11
D18S5114,16
D19S43313
D21S1129,32.2
FGA23,25
Penta D12,13
Penta E5,13
TH019.3
TPOX8,11
vWA16

Run an STR similarity search on this cell line
Publications

PubMed=29304398; DOI=10.1016/j.scr.2017.12.012
Meraviglia V., Benzoni P., Landi S., Murano C., Langione M., Motta B.M., Baratto S., Silipigni R., Di Segni M., Pramstaller P.P., DiFrancesco D., Gazzerro E., Barbuti A., Rossini A.
Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene.
Stem Cell Res. 27:25-29(2018)

Cross-references
Cell line databases/resources hPSCreg; EURACi003-A
SKIP; SKIP002986
Encyclopedic resources Wikidata; Q54832948
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number8