GM15788
LCL from B-Lymphocyte
Description:
NIJMEGEN BREAKAGE SYNDROME
NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
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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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Family Member
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3
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Relation to Proband
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maternal grandmother
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Confirmation
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Clinical summary/Case history
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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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| Gene |
NBS1 |
| Chromosomal Location |
8q21 |
| Allelic Variant 1 |
602667.0001; NIJMEGEN BREAKAGE SYNDROME |
| Identified Mutation |
5-BP DEL, NT657-661; In Nijmegen breakage syndrome (NBS; 251260) patients of
Slavic origin, Varon et al. [Cell 93: 467-476, (1998)] identified a common
deletion of 5 nucleotides in exon 6 of the NBS1 gene, resulting in a
frameshift and a truncated protein. The deletion introduced a premature
termination signal at codon 218, which was predicted to result in a
severely truncated polypeptide. The truncating 5-bp deletion (657del5)
had been identified in 90% of NBS patients. |
| Remarks |
Clinically unaffected; maternal grandmother of GM15789; heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 [657-661delACAAA (657del5)] |
| Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska-Walasek M, Sykut-Cegielska J, Sperling K, Reis A, Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur J Hum Genet.8(11):900-2 2000 |
| PubMed ID: 11093281 |
| Split Ratio |
1:4 |
| 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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