Cellosaurus cell line IRAN1010 LCL (CVCL

Cross-references
Cell line name	IRAN1010 LCL
Accession	CVCL_A9F5
Resource Identification Initiative	To cite this cell line use: IRAN1010 LCL (RRID:CVCL_A9F5)
Comments	Population: Iranian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Ala57Pro (c.169G>C); ClinVar=VCV000014506; Zygosity=Heterozygous (PubMed=12927431).
Disease	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (NCIt: C174217) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ORDO: Orphanet_2229)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A9F4 ! IRAN1010 fibroblast
Sex of cell	Female
Age at sampling	23Y
Category	Transformed cell line
Publications	PubMed=12927431; DOI=10.1016/S0140-6736(03)14069-X Chen L.-S., Lee L., Kudlow B.A., Dos Santos H.G., Sletvold O., Shafeghati Y., Botha E.G., Garg A., Hanson N.B., Martin G.M., Mian I.S., Kennedy B.K., Oshima J. LMNA mutations in atypical Werner's syndrome. Lancet 362:440-445(2003)
Encyclopedic resources	Wikidata; Q102114246
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	6