ID   IRAN1010 fibroblast
AC   CVCL_A9F4
DR   Wikidata; Q102114245
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   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_A9F5 ! IRAN1010 LCL
SX   Female
AG   23Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
//
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).
//