Cellosaurus cell line 411BR (CVCL

Cellosaurus 411BR (CVCL_A1TX)

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Cell line name

411BR

Synonyms

411 BRighton

Accession

CVCL_A1TX

Resource Identification Initiative

To cite this cell line use: 411BR (RRID:CVCL_A1TX)

Comments

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 (PubMed=11779494).
Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Thr9Ile (c.26C>T); ClinVar=VCV000007677; Zygosity=Homozygous (PubMed=11779494).
Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Arg278His (c.833G>A); ClinVar=VCV000007675; Zygosity=Homozygous (PubMed=11779494).

Disease

LIG4 syndrome (NCIt: C122657)
LIG4 syndrome (ORDO: Orphanet_99812)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_A1TY (411BRneo)

Sex of cell

Sex unspecified

Age at sampling

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; Q105505930

Entry history

Entry creation

12-Jan-2021

Last entry update

19-Dec-2024

Version number