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 |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Country of Origin
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USA
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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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| PDL at Freeze |
3.9 |
| Passage Frozen |
11 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| CHLORIDE TRANSPORT |
Lin & Gruenstein (J Biol Chem 262:15345-15347,1987) reported that fibroblasts from this cystic fibrosis patient showed a defect in a cAMPactivated Cl- channel. |
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| 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). |
| |
| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
602421.0001; CYSTIC FIBROSIS |
| Identified Mutation |
PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508). |
| Remarks |
Diagnosed at age 7 months; negative family history for CF; sweat chloride: 120 meq/ L; on enzyme replacements; expired at age 11; defective fibroblast cAMP-stimulated Cl-channel; donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL). |
| Wong AP, Shojaie S, Liang Q, Xia S, Di Paola M, Ahmadi S, Bilodeau C, Garner J, Post M, Duchesneau P, Waddell TK, Bear CE, Nagy A, Rossant J, Conversion of human and mouse fibroblasts into lung-like epithelial cells Scientific reports9:9027 2019 |
| PubMed ID: 31227724 |
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| Lin PY, Gruenstein E, Identification of a defective cAMP-stimulated Cl- channel in cystic fibrosis fibroblasts. J Biol Chem262:15345-7 1987 |
| PubMed ID: 2445735 |
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| Kurz JB, Perkins JP, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981 |
| PubMed ID: 6170925 |
| Passage Frozen |
11 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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