Cellosaurus cell line IRAN1010 fibroblast (CVCL

Cross-references
Cell line name	IRAN1010 fibroblast
Accession	CVCL_A9F4
Resource Identification Initiative	To cite this cell line use: IRAN1010 fibroblast (RRID:CVCL_A9F4)
Comments	Population: Iranian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
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_A9F5 ! IRAN1010 LCL
Sex of cell	Female
Age at sampling	23Y
Category	Finite 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; Q102114245
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	7