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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; P00552; Klebsiella pneumoniae transposon Tn5 neo.
Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; Simian virus 40 (SV40) large T antigen.
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
Mark O'Driscoll, Karen M. Cerosaletti, Pierre-Marie Girard, Yan Dai, Markus Stumm, Boris Kysela, Betsy Hirsch, Andrew R. Gennery, Susan E. Palmer, Jorg Seidel, Richard A. Gatti ...Show all 16 authors... , Raymonda Varon, Marjorie Ann Oettinger, Heidemarie Neitzel, Penelope Ann Jeggo, Patrick Concannon; Show fewer authors
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 update14-Aug-2025
Version number9