Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays.
Sebastian
Siby
S
Department of Pathology, Molecular Diagnostics Laboratory, Duke University Medical Center, Durham, NC, USA.
Spitzer
Silvia G
SG
Grosso
Leonard E
LE
Amos
Jean
J
Schaefer
Frederick V
FV
Lyon
Elaine
E
Wolff
Daynna J
DJ
Hajianpour
Atieh
A
Taylor
Annette K
AK
Millson
Alison
A
Stenzel
Timothy T
TT
D002460:Cell Line; D003550:Cystic Fibrosis / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007438:Introns; D009154:Mutation; D011110:Polymorphism, Genetic; D012015:Reference Standards; D013912:Threonine / Q000235:genetics
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D013912:Threonine