ID   CMDi001-A
AC   CVCL_D0DG
SY   01016
DR   BioSamples; SAMEA112655517
DR   hPSCreg; CMDi001-A
DR   Wikidata; Q123030943
RX   PubMed=30405424;
WW   https://www.fujifilmcdi.com/mycell-cardiomyocytes-dcm-lmna-l35p-01016-gcmcl35p01016
CC   From: CureCMD; Lakewood; USA.
CC   From: Fujifilm Cellular Dynamics International, Inc.; Madison; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Leu35Pro (c.104T>C); ClinVar=VCV000066765; Zygosity=Unspecified (PubMed=30405424).
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   15-19Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=30405424; DOI=10.3389/fphys.2018.01332;
RA   Steele-Stallard H.B., Pinton L., Sarcar S., Ozdemir T.,
RA   Maffioletti S.M., Zammit P.S., Tedesco F.S.;
RT   "Modeling skeletal muscle laminopathies using human induced
RT   pluripotent stem cells carrying pathogenic LMNA mutations.";
RL   Front. Physiol. 9:1332.1-1332.19(2018).
//