ID   46BRLigI
AC   CVCL_L950
DR   BTO; BTO_0005013
DR   Wikidata; Q54603236
RX   PubMed=19628465;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6598; LIG1; Simple; p.Glu566Lys (c.1696G>A); ClinVar=VCV000016775; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:6598; LIG1; Simple; p.Arg771Trp (c.2311C>T); ClinVar=VCV000016776; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P0A9M5; Escherichia coli gpt.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSV3-gpt).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C122658; DNA ligase I deficiency
DI   NCIt; C26931; Hypogammaglobulinemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_2288 ! 46BR.1G1
SX   Female
AG   18Y
CA   Transformed cell line
DT   Created: 06-05-13; Last updated: 10-04-25; Version: 19
//
RX   PubMed=19628465; DOI=10.1074/jbc.M109.034405; PMCID=PMC2785351;
RA   Lopez Castel A., Tomkinson A.E., Pearson C.E.;
RT   "CTG/CAG repeat instability is modulated by the levels of human DNA
RT   ligase I and its interaction with proliferating cell nuclear antigen:
RT   a distinction between replication and slipped-DNA repair.";
RL   J. Biol. Chem. 284:26631-26645(2009).
//