ID   CMDi002-A
AC   CVCL_D0DH
SY   01173
DR   BioSamples; SAMEA112655519
DR   hPSCreg; CMDi002-A
DR   Wikidata; Q123030944
RX   PubMed=30405424;
CC   From: CureCMD; Lakewood; USA.
CC   From: Fujifilm Cellular Dynamics International, Inc.; Madison; USA.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Lys32del (c.94_96delAAG); ClinVar=VCV000066960; Zygosity=Unspecified (PubMed=30405424).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   65-69Y
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).
//