ID   EURACi015-A
AC   CVCL_C9IA
SY   LMNA #9
DR   hPSCreg; EURACi015-A
DR   Wikidata; Q123031255
RX   PubMed=37535990;
CC   From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Glu161Lys (c.481G>A); ClinVar=VCV000014504; Zygosity=Heterozygous (PubMed=37535990).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C165596; Dilated cardiomyopathy-1A
DI   ORDO; Orphanet_300751; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37535990; DOI=10.1016/j.scr.2023.103172;
RA   Cattelan G., Frommelt L.-S., Volani C., Colliva A., Ciucci G.,
RA   Paldino A., Dal Ferro M., Di Segni M., Silipigni R., Pramstaller P.P.,
RA   De Bortoli M., Zacchigna S., Rossini A.;
RT   "Generation of human induced pluripotent stem cell line EURACi015-A
RT   from a patient affected by dilated cardiomyopathy carrying the Lamin
RT   A/C p.Glu161Lys mutation.";
RL   Stem Cell Res. 71:103172-103172(2023).
//