Description:
NEUROFIBROMATOSIS, TYPE I; NF1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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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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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 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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| Gene |
NF1 |
| Chromosomal Location |
17q11.2 |
| Allelic Variant 1 |
; NEUROFIBROMATOSIS, TYPE I |
| Identified Mutation |
1-BP DEL, EX 28 |
| Remarks |
Multiple cafe au lait spots; axillary freckling; acute lymphocytic leukemia in remission; deletion of a single nucleotide in exon 28 of the NF1 gene [5010delG] leading to a frameshift causing a premature stop codon just downstream ( thus this allele encodes a protein that is predicted to be truncated after 1646 amino acids, with the last 6 amino acids being incorrect) |
| Chou LS, Liu CS, Boese B, Zhang X, Mao R, DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model Clinical chemistry56:62-72 2009 |
| PubMed ID: 19910506 |
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| Colman SD, Collins FS, Wallace MR, Characterization of a single base-pair deletion in neurofibromatosis type 1 Human molecular genetics2:1709-11 1993 |
| PubMed ID: 8268926 |
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