ID   IRAN1010 LCL
AC   CVCL_A9F5
DR   Wikidata; Q102114246
RX   PubMed=12927431;
CC   Population: Iranian.
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Ala57Pro (c.169G>C); ClinVar=VCV000014506; Zygosity=Heterozygous (PubMed=12927431).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C174217; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
DI   ORDO; Orphanet_2229; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A9F4 ! IRAN1010 fibroblast
SX   Female
AG   23Y
CA   Transformed cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 6
//
RX   PubMed=12927431; DOI=10.1016/S0140-6736(03)14069-X;
RA   Chen L.-S., Lee L., Kudlow B.A., Dos Santos H.G., Sletvold O.,
RA   Shafeghati Y., Botha E.G., Garg A., Hanson N.B., Martin G.M.,
RA   Mian I.S., Kennedy B.K., Oshima J.;
RT   "LMNA mutations in atypical Werner's syndrome.";
RL   Lancet 362:440-445(2003).
//