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Cellosaurus AG17524 (CVCL_X815)

[Text version]
Cell line name AG17524
Accession CVCL_X815
Resource Identification Initiative To cite this cell line use: AG17524 (RRID:CVCL_X815)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9949; RECQL4; Simple; c.1391-1G>A (g.2626G>A); ClinVar=VCV000006067; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=AG17524).
  • Mutation; HGNC; HGNC:9949; RECQL4; Simple; p.His831Argfs*52 (c.2492_2493delAT) (2-BP DEL,NT2492); ClinVar=VCV000006064; Zygosity=Heterozygous (Coriell=AG17524).
Disease Rothmund-Thomson syndrome (NCIt: C3335)
Rothmund-Thomson syndrome (ORDO: Orphanet_2909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
Publications

PubMed=23001818; DOI=10.1007/s11357-012-9476-9; PMCID=PMC3776094
Davis T., Tivey H.S.E., Brook A.J.C., Grimstead J.W., Rokicki M.J., Kipling D.
Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund-Thomson syndrome.
Age (Dordr.) 35:1767-1783(2013)

Cross-references
Cell line collections (Providers) Coriell; AG17524
Cell line databases/resources CLO; CLO_0011805
Encyclopedic resources Wikidata; Q54746260
Entry history
Entry creation05-Sep-2014
Last entry update19-Dec-2024
Version number17