ABCMdb

PMID: 19549452

Deleu S, Gonzalez-Merino E, Gaspard N, Nguyen TM, Vanderhaeghen P, Lagneaux L, Toungouz M, Englert Y, Devreker F
Human cystic fibrosis embryonic stem cell lines derived on placental mesenchymal stromal cells.
Reprod Biomed Online. 2009 May;18(5):704-16., [PubMed]

Sentences

No. Mutations Sentence Comment

47 ABCC7 p.Glu585* These five lines include two new CF line carriers of F508del/E585X and F508del/3849 C + T. Login to comment 75 ABCC7 p.Glu585* Genetic testing of embryos and cell lines for cystic fibrosis PGD embryos were donated by two couples, each carriers of two mutations leading to cystic fibrosis; one couple carried the F508del and the 3849+10 kb C→T mutations, the other carried the F508del and E585X mutations. Login to comment 84 ABCC7 p.Glu585* Since each couple carried two different mutations, the ΔF508 and the 3849+10 kb C→T mutations for couple 1, and the ΔF508 and E585X mutations for couple 2, a multiplex PCR protocol was chosen to amplify the ΔF508 mutation in combination with informative intragenic polymorphic markers allowing indirect detection of the less frequent mutation by identifying the allele segregating with this mutation. Login to comment 216 ABCC7 p.Glu585* Capillary electrophoresis of fluorescent triplex polymerase chain reaction products after analysis of the cystic fibrosis F508del mutation in combination with two intragenic CFTR polymorphic markers IVS6aGATT and IVS17bCA used for the indirect detection of the cystic fibrosis E585X mutation. Each allele detected is labelled with two tags corresponding to its size (bp) and height in PFU. Login to comment 217 ABCC7 p.Glu585* At locus IVS6aGATT, the allele with a size of 104 bp corresponds to the mutated allele from the father who is heterozygous for the F508DELmutation and at locus IVS17bCA, the allele with a size of 142 bp is the mother`s allele carrying the E585X mutation. At locus ΔF508, the allele with a size of 353 bp carries the 3 bp F508del deletion. Login to comment 220 ABCC7 p.Glu585* These two lines are heterozygous compound for two mutations: F508del/3849 C→T and F508del/ E585X. Login to comment 257 ABCC7 p.Glu585* The two CF cell lines reported here carry specific mutations that have not yet been reported.These two cell lines are heterozygous compound for two mutations, the well known F508del and either the E585X or the 3849+10 kb C→T. Login to comment 258 ABCC7 p.Glu585* The E585X mutation was described in 1992 by Cremonesi et al., and is responsible for the production of an abnormal protein. Login to comment 260 ABCC7 p.Glu585* Clinically, the E585X mutation is associated with severe pulmonary disease. Login to comment