ID   FAMRCi006-A
AC   CVCL_WP86
SY   LMNA T3
DR   BioSamples; SAMEA6275229
DR   hPSCreg; FAMRCi006-A
DR   SKIP; SKIP005853
DR   Wikidata; Q93549770
RX   PubMed=32059175;
CC   From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Arg527Pro (c.1580G>C); ClinVar=VCV000014481; Zygosity=Heterozygous (PubMed=32059175).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C148369; Muscular dystrophy congenital, LMNA-related
DI   ORDO; Orphanet_157973; Congenital muscular dystrophy due to LMNA mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WP87 ! FAMRCi006-B
SX   Female
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=32059175; DOI=10.1016/j.scr.2020.101714;
RA   Perepelina K.I., Klauzen P., Khudiakov A.A., Zlotina A., Fomicheva Y.,
RA   Rudenko D., Gordeev M., Sergushichev A., Malashicheva A.B.,
RA   Kostareva A.A.;
RT   "Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from
RT   patient with dilated cardiomyopathy and Emery-Dreifuss muscular
RT   dystrophy associated with genetic variant LMNA p.Arg527Pro.";
RL   Stem Cell Res. 43:101714-101714(2020).
//