ABCMdb

PMID: 24204751

Wine JJ, Char JE, Chen J, Cho HJ, Dunn C, Frisbee E, Joo NS, Milla C, Modlin SE, Park IH, Thomas EA, Tran KV, Verma R, Wolfe MH
In vivo readout of CFTR function: ratiometric measurement of CFTR-dependent secretion by individual, identifiable human sweat glands.
PLoS One. 2013 Oct 24;8(10):e77114. doi: 10.1371/journal.pone.0077114. eCollection 2013., [PubMed]

Sentences

No. Mutations Sentence Comment

97 ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Ile1027Thr ABCC7 p.Arg851* ID G Genotype Sweat Cl (mEq) # Tests MCh Glands (n) Cktl Glands (n) C glands/ M glands (%) MCh Rate (nl/gl/ min) Cktl Rate (nl/gl/min) Mean C/M Ratio Ratio (% Control Mean) FEV1 Culture Results Control C2 F no mutations - 1 61 57 93% 2.53 0.538 0.221 83.49% - - C3 M - - 1 46 46 100% 8.47 2.713 0.376 142.02% - - C4 F - - 1 42 41 98% 3.23 0.715 0.244 92.03% - - C5 M - - 4 45 45 100% 4.75 0.606 0.139 52.49% - - C6 M - - 2 35 35 100% 7.35 1.285 0.338 127.56% - - C7 F - - 1 32 32 100% 5.69 1.426 0.272 102.42% - - C Mean 6 SD or sumsR 10 261 256 9963% 5.362.3 1.260.8 0.265 100632% Heterozygotes Hz1 M F508del - 3 37 37 100% 2.76 0.462 0.188 71.00% - - Hz2 F 3659 del C - 1 19 18 95% 1.63 0.215 0.139 52.26% - - Hz3 M F508del - 1 17 17 100% 11.95 1.704 0.150 56.66% - - Hz4 F R553X or N1303K - 1 35 33 94% 3.14 0.196 0.062 23.41% - - Hz Mean 6 SD or sumsR 6 108 105 9763% 4.964.7 0.6460.71 0.135 51620% CF-Pancreatic Insufficient PI1 F F508del/F508del 100 1 31 0 0% 2.52 0.000 0.000 0.00% 70% Pa (mucoid) PI2 F F508del/3659 del C 82 3 27 0 0% 3.35 0.000 0.000 0.00% 103% Aspergillus only PI3 F F508del/F508del 70 1 34 0 0% 0.88 0.000 0.000 0.00% 88% MRSA, Pa (mucoid) PI4 F F508del/I1027T/R851X - 3 47 0 0% 2.65 0.000 0.000 0.00% - - PI5 F R553X/N1303K 80 3 48 0 0% 1.58 0.000 0.000 0.00% Tx Tx PI6 F F508/F508 91 3 73 0 0% 1.35 0.000 0.000 0.00% 64% Pa (mucoid) PI7 M F508/621+1G-.T 133 1 26 0 0% 4.96 0.000 0.000 0.00% 95% Pa (muc.,non-muc.) Login to comment 99 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp PI9 M F508/G551D - 2 82 0 0% 4.31 0.000 0.000 0.00% - - PI10 F F508del/G551D 110 1 124 0 0% 0.85 0.000 0.000 0.00% 98% Pa/SA61 only 12/10 PI11 F F508del/G551D 102 1 97 0 0% 1.90 0.000 0.000 0.00% 87% Staph. Login to comment 100 ABCC7 p.Gly551Asp Aureas PI12 F F508del/G551D 78 1 123 0 0% 2.14 0.000 0.000 0.00% 51% Pa (non-muc. Login to comment 102 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Phe1052Val PS2 M F508del/R117H, 5T 92.5 2 38 0 0% 2.16 0.000 0.000 0.00% - - PS4 F F508del/3849+10 kb CRT 90 2 59 2 3% 2.42 0.000 0.000 0.00% 51% MRSA, Pa (muc, non-m) PS5 M F508del/R117H 83 3 51 0 0% 4.20 0.000 0.000 0.00% 66% Pa(muc and non), SA PS6 F F508del/3849+10 kb CRT 70 3 37 0 0% 1.23 0.000 0.000 0.00% 38% Pa (m) CFPS Mean 6 SD or sumsR 80612 12 228 2 1% 2.261.3 0.000 0.000 0.00% 49% CFTR-Related R1 M F508del/F1052V, nv 7T/9T 69 2 40 40 100% 6.76 0.265 0.038 14.16% - - R2 F M470V 44 3 57 57 100% 2.88 0.620 0.211 79.65% 81% A. xylosoxidans R3 F M470V, 7T/7T 71 3 34 13 38% 1.87 0.010 0.004 1.52% - - R4 M F508del/Unk 52 2 69 44 64% 4.03 0.021 0.005 1.98% 44% Pa (mucoid) positioned 1.7 cm above the skin to produce more diffuse light that worked well with the stained sweat droplets. Login to comment