ID   FAMRCi007-A
AC   CVCL_WP88
SY   LMNA #4
DR   BioSamples; SAMEA6276784
DR   hPSCreg; FAMRCi007-A
DR   Wikidata; Q93549779
RX   PubMed=32659731;
CC   From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Arg249Gln (c.746G>A); ClinVar=VCV000066931; Zygosity=Heterozygous (PubMed=32659731).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=32659731
ST   Amelogenin: X,Y
ST   D12S391: 17,23
ST   D13S317: 10
ST   D18S51: 11,17
ST   D21S11: 25,28.2
ST   D2S441: 9,13
ST   D3S1358: 16,17
ST   D7S820: 7,8
ST   TH01: 9.3
ST   TPOX: 8,11
ST   vWA: 16,17,18.2,19
DI   NCIt; C126745; Emery-Dreifuss muscular dystrophy 2, autosomal dominant
DI   ORDO; Orphanet_98853; Autosomal dominant Emery-Dreifuss muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WP89 ! FAMRCi007-B
SX   Male
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32659731; DOI=10.1016/j.scr.2020.101895;
RA   Perepelina K.I., Kostina A., Klauzen P., Khudiakov A.A., Rabino M.,
RA   Crasto S., Zlotina A., Fomicheva Y., Sergushichev A., Oganesian M.,
RA   Dmitriev A., Kostareva A.A., Di Pasquale E., Malashicheva A.B.;
RT   "Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from
RT   patient with Emery-Dreifuss muscular dystrophy and heart rhythm
RT   abnormalities carrying genetic variant LMNA p.Arg249Gln.";
RL   Stem Cell Res. 47:101895-101895(2020).
//