GM11285
LCL from B-Lymphocyte
Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
GeT-RM Samples |
| 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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| 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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| CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES |
Cystic fibrosis gene alleles are Y1092X & F508: Tyr>stop at amino acid 1092 (C>A at nucleotide 3408 in exon 17a) & deletion of Phe at amino acid 508 in exon 10. |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
602421.0106; CYSTIC FIBROSIS |
| Identified Mutation |
TYR1092TER; A point mutation creates a stop codon in place of tyrosine-1092 [Gasparini et al. Hum. Mutat. 2: 389-394 (1993)]. |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
602421.0001; CYSTIC FIBROSIS |
| Identified Mutation |
PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508). |
| Remarks |
TYR1092TER (Y1092X)/F508 [PHE508DEL]; Tyr>stop at amino acid 1092 (C>A at nucleotide 3408 in exon 17a)/deletion of Phe at amino acid 508 in exon 10 |
| Pratt VM, Caggana M, Bridges C, Buller AM, Diantonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV, Development of genomic reference materials for cystic fibrosis genetic testing The Journal of molecular diagnostics : JMD11:186-93 2009 |
| PubMed ID: 19359498 |
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| Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC, Identification of the cystic fibrosis gene: genetic analysis. Science245:1073-80 1989 |
| PubMed ID: 2570460 |
| 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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