GM18802
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 |
| Class |
Disorders of Uncertain Biochemical Etiology |
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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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Ethnicity
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CZECH
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before 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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| MUTATION VERIFICATION |
The Y122X CFTR mutation in this cell line has been verified by 4 laboratories. Methods used for mutation identification of Y122X include: MALDI-TOF mass spectrometry (51 mutation panel); Invader analyte specific reagents; CF29/CF30 Elucigene kit; sequencing of entire coding region and splice junction sites. The A209S and R1158X CFTR mutations in this cell line were identified by one laboratory through sequencing of the entire coding region and splice junction sites. |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
Y122X; CYSTIC FIBROSIS |
| Identified Mutation |
TYR122TER |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
602421.0039; CYSTIC FIBROSIS |
| Identified Mutation |
ARG1158TER; In an Italian CF patient known to be a genetic compound, Ronchetto et al. (1992) found a C-to-T transition at nucleotide 3604, which changed an arginine residue at position 1158 to a stop codon (R1158X). The patient carried an unknown mutation on the other chromosome and was pancreatic sufficient.
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| Remarks |
Czechoslovakian; clinically affected with classical form of cystic fibrosis; the donor subject is heterozygous: one allele carries an T-to-A substitution at nucleotide 498 (T498A) in exon 4 of the CFTR gene, resulting in a nonsense mutation in codon 122 [TYR122TER (Y122X)]; the other allele carries an R1158X 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 7T/7T |
| 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 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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