PMID: 21544602

Thomsen KF, Laposata M, Njoroge SW, Umunakwe OC, Katrangi W, Seegmiller AC
Increased elongase 6 and Delta9-desaturase activity are associated with n-7 and n-9 fatty acid changes in cystic fibrosis.
Lipids. 2011 Aug;46(8):669-77. Epub 2011 May 5., [PubMed]
Sentences
No. Mutations Sentence Comment
39 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 21544602:39:95
status: NEW
view ABCC7 p.Trp1282* details
 IB3 cells are compound heterozygotes which contain one DF508 allele and one nonsense mutation, W1282X, with a premature termination signal [23]. Login to comment 119 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 21544602:119:149
status: NEW
view ABCC7 p.Trp1282* details
 The IB3 cell line consists of immortalized bronchial epithelial cells from an actual CF patient that carried a compound heterozygous genotype (DF508/W1282X) [23]. Login to comment