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 |
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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|
Relation to Proband
|
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 LINE assay |
| |
| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
602421.0001; CYSTIC FIBROSIS |
| Identified Mutation |
PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508). |
| Remarks |
Donor subject is heterozygous for the deltaF508 deletion mutation (Phe508DEL) |
| Hong F, Ma D, Wu K, Mina LA, Luiten RC, Liu Y, Yan H, Green AA, Precise and Programmable Detection of Mutations Using Ultraspecific Riboregulators Cell180:1018-1032.e16 2019 |
| PubMed ID: 32109416 |
| |
| 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 |
|