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Cellosaurus EURACi002-A (CVCL_VE39)

[Text version]
Cell line name EURACi002-A
Synonyms L1CAV3
Accession CVCL_VE39
Resource Identification Initiative To cite this cell line use: EURACi002-A (RRID:CVCL_VE39)
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.Trp101Cys (c.303G>C); ClinVar=VCV000265072; Zygosity=Heterozygous (PubMed=29304398).
Disease HyperCKmia (NCIt: C148327)
Isolated asymptomatic elevation of creatine phosphokinase (ORDO: Orphanet_206599)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 22Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29304398

Markers:
AmelogeninX
CSF1PO10,12
D1S165616.3,17
D2S133823,25
D3S135816,18
D5S81811,12
D6S104311,12
D7S8208,12
D8S117910,13
D12S39117,19
D13S31711,13
D16S5399,13
D18S5113,18
D19S43312,16.2
D21S1129
FGA24
Penta D9,11
Penta E12,13
TH017,8
TPOX8,11
vWA16,17

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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; EURACi002-A
SKIP; SKIP002985
Encyclopedic resources Wikidata; Q54832947
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number8