GM11859
LCL from B-Lymphocyte
Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR |
The CFTR gene mutation data for this repository number was verified by sequencing. |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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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 |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
; CYSTIC FIBROSIS |
| Identified Mutation |
c.2657+5 G>A |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
; CYSTIC FIBROSIS |
| Identified Mutation |
c.2657+5 G>A |
| Remarks |
Clinically affected; mild pulmonary disease with pancreatic exocrine sufficiency and elevated sweat chloride; donor subject is homozygous for G-to-A substitution at nucleotide 2657+5 in intron 14b which results in an mRNA splicing defect: c.2657+5G>A (g. 117242922); alternate nomenclature is c.2789+5G>A) analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T; SMN1: no deletion detected for exon 7 and exon 8; SMN2: homozygous deletion of exon 7 and exon 8. |
| Leung ML, Watson DJ, Vaccaro CN, Mafra F, Wenocur A, Wang T, Hakonarson H, Santani A, Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel Scientific data7:8 2019 |
| PubMed ID: 31913291 |
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| 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 |
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| 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 |
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| Knowles MR, Barnett TB, McConkie-Rosell A, Sawyer C, Kahler SG, Mild cystic fibrosis in a consanguineous family. Ann Intern Med110:599-605 1989 |
| PubMed ID: 2930093 |
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| McConkie-Rosell A, Chen YT, Harris D, Speer MC, Pericak-Vance MA, Ding JH, Highsmith WE Jr, Knowles M, Kahler SG, Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype. Ann Intern Med111:797-801 1989 |
| PubMed ID: 2817627 |
| Split Ratio |
1:3 |
| 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 |
- |
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