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Cellosaurus 411BRneo (CVCL_A1TY)

[Text version]
Cell line name 411BRneo
Accession CVCL_A1TY
Resource Identification Initiative To cite this cell line use: 411BRneo (RRID:CVCL_A1TY)
Comments Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSV3-neo).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Ala3Val (c.8C>T); ClinVar=VCV000007676; Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Thr9Ile (c.26C>T); ClinVar=VCV000007677; Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Arg278His (c.833G>A); ClinVar=VCV000007675; Zygosity=Homozygous (from parent cell line).
Disease LIG4 syndrome (NCIt: C122657)
LIG4 syndrome (ORDO: Orphanet_99812)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A1TX (411BR)
Sex of cell Sex unspecified
Age at sampling 9Y
Category Finite cell line
Publications

PubMed=11779494; DOI=10.1016/S1097-2765(01)00408-7
O'Driscoll M., Cerosaletti K.M., Girard P.-M., Dai Y., Stumm M., Kysela B., Hirsch B., Gennery A.R., Palmer S.E., Seidel J., Gatti R.A., Varon R., Oettinger M.A., Neitzel H., Jeggo P.A., Concannon P.
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
Mol. Cell 8:1175-1185(2001)

Cross-references
Encyclopedic resources Wikidata; Q105505933
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number8