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Cellosaurus EURACi015-A (CVCL_C9IA)

[Text version]
Cell line name EURACi015-A
Synonyms LMNA #9
Accession CVCL_C9IA
Resource Identification Initiative To cite this cell line use: EURACi015-A (RRID:CVCL_C9IA)
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; 6636; LMNA; Simple; p.Glu161Lys (c.481G>A); ClinVar=VCV000014504; Zygosity=Heterozygous (PubMed=37535990).
Disease Dilated cardiomyopathy-1A (NCIt: C165596)
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORDO: Orphanet_300751)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 56Y
Category Induced pluripotent stem cell
Publications

PubMed=37535990; DOI=10.1016/j.scr.2023.103172
Cattelan G., Frommelt L.-S., Volani C., Colliva A., Ciucci G., Paldino A., Dal Ferro M., Di Segni M., Silipigni R., Pramstaller P.P., De Bortoli M., Zacchigna S., Rossini A.
Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation.
Stem Cell Res. 71:103172-103172(2023)

Cross-references
Cell line databases/resources hPSCreg; EURACi015-A
Encyclopedic resources Wikidata; Q123031255
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2