ABCMdb

PMID: 25739099

Regan JF, Kamitaki N, Legler T, Cooper S, Klitgord N, Karlin-Neumann G, Wong C, Hodges S, Koehler R, Tzonev S, McCarroll SA
A rapid molecular approach for chromosomal phasing.
PLoS One. 2015 Mar 4;10(3):e0118270. doi: 10.1371/journal.pone.0118270. eCollection 2015., [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Gly1349Asp ABCC7 p.Asn1303Lys The cystic fibrosis cell lines derived from Epstein-Barr virus transformed B-lymphocytes included: GM11286 and GM11274, which were determined to have c.1652G>A (p.Gly551Asp) and c.1521_1523delCTT (p.Phe508del) variants [22]; GM11279, which was determined to have 129G>C (promoter), c.350G>A (p.Arg117His), and c.1521_1523delCTT (p.Phe508del) variants [23]; GM11472, which was characterized to have c.1210-12T[7], c.1210-12T[9], c.3909C>G (p. Asn1303Lys), and c.4046G>A (p.Gly1349Asp) variants [24,25] (c.4046G>A is also referred to as c.4178G>A in some dbSNP databases); and GM13591, which was characterized to have c.350G>A (p.Arg117His), c.1210-12T[5], c.1210-12T[9], and c.1521_1523delCTT (p.Phe508del) variants [26]. Login to comment 59 ABCC7 p.Gly551Asp One untransformed fibroblast cell line, GM03465, was included in the study, and was characterized to have c.1652G>A (p.Gly551Asp) and c.1521_1523delCTT (p.Phe508del) variants [22]. Login to comment 180 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Gly1349Asp ABCC7 p.Asn1303Lys Variant 129G/C R117H 5T 7T 9T ƊF508 G551D N1303K G1349D Effect on cDNA promoter 350G>A intron intron intron 1521_1523 delCTT 1652G>A 3909C>G 4046G>A (4178G>A) GM11286 Hap 1 Hap 2 GM03465 Hap 1 Hap 2 GM11274 Hap 1 Hap 2 GM11279 Hap 1 Hap 1 Hap 1 Hap 2 Hap 2 GM11472 Hap 1 Hap 2 Hap 2 Hap 1 GM13591 Hap 1 Hap 1 Hap 2 Hap 2 Key: Hap 1 = Haplotype 1, Hap 2 = Haplotype 2 doi:10.1371/journal.pone.0118270.t001 Fig 4. Login to comment