ID   FAMRCi005-B
AC   CVCL_WP85
SY   LMNA B5
DR   BioSamples; SAMEA6268135
DR   hPSCreg; FAMRCi005-B
DR   SKIP; SKIP005855
DR   Wikidata; Q93549762
RX   PubMed=32062135;
CC   From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Asp357Val (c.1070A>T); ClinVar=VCV000428603; Zygosity=Heterozygous (PubMed=32062135).
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)
OI   CVCL_WP84 ! FAMRCi005-A
SX   Female
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=32062135; DOI=10.1016/j.scr.2020.101719;
RA   Klauzen P., Perepelina K.I., Khudiakov A.A., Zlotina A., Fomicheva Y.,
RA   Pervunina T.M., Vershinina T.L., Kostareva A.A., Malashicheva A.B.;
RT   "Generation of two induced pluripotent stem cell lines (FAMRCi005-A
RT   and FAMRCi005-B) from patient carrying genetic variant LMNA
RT   p.Asp357Val.";
RL   Stem Cell Res. 43:101719-101719(2020).
//