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Cellosaurus EURACi001-A (CVCL_VE38)

[Text version]
Cell line name EURACi001-A
Synonyms B2CAV3
Accession CVCL_VE38
Resource Identification Initiative To cite this cell line use: EURACi001-A (RRID:CVCL_VE38)
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.Tyr62_Thr64del (c.184_192del); Zygosity=Heterozygous (PubMed=29304398).
Disease Limb-girdle muscular dystrophy type 1C (NCIt: C148318)
Autosomal dominant limb-girdle muscular dystrophy type 1C (ORDO: Orphanet_265)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 36Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29304398

Markers:
AmelogeninX
CSF1PO10,12
D1S165614,17.3
D2S133820,23
D3S135816,17
D5S81813
D6S104311,18
D7S82011
D8S117912,13
D12S39115,21
D13S31712,14
D16S53912,13
D18S5114,20
D19S43312,13
D21S1131.2,32.2
FGA23,25
Penta D11,12
Penta E7,10
TH017,9.3
TPOX8,9
vWA17,18

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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; EURACi001-A
SKIP; SKIP002984
Encyclopedic resources Wikidata; Q54832946
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number8