Description:
NEUROFIBROMATOSIS, TYPE I; NF1
NEUROFIBROMIN 1; 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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Family Member
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1
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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 |
| |
| Gene |
NF1 |
| Chromosomal Location |
17q11.2 |
| Allelic Variant 1 |
; NEUROFIBROMATOSIS, TYPE I; NF1 |
| Identified Mutation |
c.1183insT (p.395X) |
| Remarks |
cafe au lait spots and neurofibromas; HLA type A3,A2,B27,Bw22(Bw40); Sanger sequencing identified a mutation: c.1183insT (het) (NM_001042492.2; Exon10). This mutation leads to a frameshift causing a premature stop codon downstream (p.395X); see also GM01858B and GM01859 Fibroblast;
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| Vincent A, Heitz D, Petit C, Kretz C, Oberle I, Mandel JL, Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature349:624-6 1991 |
| PubMed ID: 1672039 |
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