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GM11496 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)

Affected:

Yes

Sex:

Female

Age:

16 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
dbGaP
Class Other Disorders of Known Biochemistry
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Short stature; growth hormone deficiency; uniparental disomy for chromosome 7; pancreatic insufficiency since childhood; at age 19.5, has moderate pulmonary disease with localized bronchiectasis and allergic bronchopulmonary aspergillosis; homozygous for exon 11 Gly542TER (G542X) nonsense mutation; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES Genotype analysis of the DNA from this cystic fibrosis patient showed homozygosity for the G542X mutation (Gly to Stop at amino acid 542).
 
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR The CFTR gene mutation data for this repository number was verified by sequencing.
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 1 602421.0009; CYSTIC FIBROSIS
Identified Mutation GLY542TER; A G-to-T change in nucleotide 1756 in exon 11 is responsible for a stop mutation in codon 542 (G542X).
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 2 602421.0009; CYSTIC FIBROSIS
Identified Mutation GLY542TER; A G-to-T change in nucleotide 1756 in exon 11 is responsible for a stop mutation in codon 542 (G542X).

Phenotypic Data

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Remarks Short stature; growth hormone deficiency; uniparental disomy for chromosome 7; pancreatic insufficiency since childhood; at age 19.5, has moderate pulmonary disease with localized bronchiectasis and allergic bronchopulmonary aspergillosis; homozygous for exon 11 Gly542TER (G542X) nonsense mutation; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T

Publications

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Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021
PubMed ID: 35039224
 
Valley HC, Bukis KM, Bell A, Cheng Y, Wong E, Jordan NJ, Allaire NE, Sivachenko A, Liang F, Bihler H, Thomas PJ, Mahiou J, Mense M, Isogenic cell models of cystic fibrosis-causing variants in natively expressing pulmonary epithelial cells Journal of Cystic Fibrosis44:228-238 2018
PubMed ID: 30563749
 
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875
 
Northrop LE, Treff NR, Levy B, Scott RT, SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts Molecular human reproduction16:590-600 2010
PubMed ID: 20479065
 
Chou LS, Lyon E, Wittwer CT, A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model. Am J Clin Pathol124(3):330-8 2005
PubMed ID: 16191501
 
Zhou L, Wang L, Palais R, Pryor R, Wittwer CT, High-resolution DNA melting analysis for simultaneous mutation scanning and genotyping in solution. Clin Chem51(10):1770-7 2005
PubMed ID: 16189378
 
Hadd AG, Laosinchai-Wolf W, Novak CR, Badgett MR, Isgur LA, Goldrick M, Walkerpeach CR, Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms The Journal of molecular diagnostics : JMD6:348-55 2004
PubMed ID: 15507674
 
Huusko P, Ponciano-Jackson D, Wolf M, Kiefer JA, Azorsa DO, Tuzmen S, Weaver D, Robbins C, Moses T, Allinen M, Hautaniemi S, Chen Y, Elkahloun A, Basik M, Bova GS, Bubendorf L, Lugli A, Sauter G, Schleutker J, Ozcelik H, Elowe S, Pawson T, Trent JM, Carpten JD, Kallioniemi OP, Mousses S, Nonsense-mediated decay microarray analysis identifies mutations of EPHB2 in human prostate cancer. Nat Genet36(9):979-83 2004
PubMed ID: 15300251
 
Sebastian S, Spitzer SG, Grosso LE, Amos J, Schaefer FV, Lyon E, Wolff DJ, Hajianpour A, Taylor AK, Millson A, Stenzel TT, 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. Clin Chem50(1):251-4 2004
PubMed ID: 14709668
 
Yanagihara K, Mizuuchi K, Mismatch-targeted transposition of Mu: a new strategy to map genetic polymorphism. Proc Natl Acad Sci U S A99(17):11317-21 2002
PubMed ID: 12177413
 
Jenison R, La H, Haeberli A, Ostroff R, Polisky B, Silicon-based biosensors for rapid detection of protein or nucleic acid targets. Clin Chem47(10):1894-900 2001
PubMed ID: 11568116
 
Zhong XB, Lizardi PM, Huang XH, Bray-Ward PL, Ward DC, Visualization of oligonucleotide probes and point mutations in interphase nuclei and DNA fibers using rolling circle DNA amplification. Proc Natl Acad Sci U S A98(7):3940-5 2001
PubMed ID: 11274414
 
Dunbar SA, Jacobson JW, Application of the luminex LabMAP in rapid screening for mutations in the cystic fibrosis transmembrane conductance regulator gene: A pilot study. Clin Chem46(9):1498-500 2000
PubMed ID: 10973900
 
Kosaki K, Kosaki R, Craigen WJ, Matsuo N, Isoform-specific imprinting of the human PEG1/MEST gene. Am J Hum Genet66(1):309-12 2000
PubMed ID: 10631159
 
Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL, Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet42:217-26 1988
PubMed ID: 2893543

External Links

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dbSNP dbSNP ID: 11596
Gene Cards CFTR
Gene Ontology GO:0005216 ion channel activity
GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity
GO:0005260 channel-conductance-controlling ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005624 membrane fraction
GO:0005887 integral to plasma membrane
GO:0006811 ion transport
GO:0007585 respiratory gaseous exchange
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030165 PDZ domain binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
GEO GEO Accession No: GSM469000
GEO Accession No: GSM469001
GEO Accession No: GSM469002
GEO Accession No: GSM469003
NCBI Gene Gene ID:1080
NCBI GTR 219700 CYSTIC FIBROSIS; CF
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
OMIM 219700 CYSTIC FIBROSIS; CF
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Omim Description CYSTIC FIBROSIS; CF
  MUCOVISCIDOSIS

Culture Protocols

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Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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