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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Race
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Black/African American
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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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Biochemical characterization - other
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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 Isoenzyme Electrophoresis |
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| CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES |
Neither allele shows the F508 deletion mutation (C. Goodpasture, VIVIGEN, Santa Fe, NM, personal communication). |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
; CYSTIC FIBROSIS |
| Identified Mutation |
444delA |
| |
| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
mRNA splicing defect; CYSTIC FIBROSIS |
| Identified Mutation |
IVS11-1G>A (1812-1G>A) |
| Remarks |
Classic CF with pancreatic insufficiency; elevated sweat electrolytes; see GM04331 Fibroblast; donor subject is a compound heterozygote: one allele has a deletion of A at nucleotide 444 (444delA) in exon 4 which results in a frameshift and a second allele carries a G-to-A substitution at nucleotide 1812-1 in intron 11 which results in an mRNA splicing defect in the CFTR gene [1812-1G-A] |
| McDonald TV, Nghiem PT, Gardner P, Martens CL, Human lymphocytes transcribe the cystic fibrosis transmembrane conductance regulator gene and exhibit CF-defective cAMP-regulated chloride current. J Biol Chem267:3242-8 1992 |
| PubMed ID: 1371114 |
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