GM07857
LCL from B-Lymphocyte
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
GeT-RM Samples |
| Class |
Other Disorders of Known Biochemistry |
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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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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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HUTTERITE
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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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Molecular characterization after 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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES |
PROBE: metD metD metH metH XV-2c KM.19 pJ3.11 pJ3.11 JG ENZYME: BanI TaqI MspI TaqI TaqI PstI MspI TaqI PstI RESULTS: 2,2 1,1 1,3 1,2 1,2 2,2 1,1 2,2 Negative for F508, G551D, R553X, G542X, and N1303K mutations. The above results were kindly provided to the Repository by Dr. Arthur L. Beaudet, Baylor College of Medicine, Houston, TX. The F508 deletion result was confirmed by Dr. C. Goodpasture, VIVIGEN, Santa Fe, NM (personal communication). Zielenski et al (Am J Hum Genet 52:609-615,1993) reported that DNA from this subject with cystic fibrosis was homozygous for M1101K, a missense mutation in exon 17b of CFTR. |
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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 |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
M1101K; CYSTIC FIBROSIS |
| Identified Mutation |
MET1101LYS |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
M1101K; CYSTIC FIBROSIS |
| Identified Mutation |
MET1101LYS |
| Remarks |
Two sibs also affected; consanguineous parents; mild disease; positive sweat test; Hutterite; donor subject is homozygous for a T-to-A transition at nucleotide 3434 (3434T>A) which converts the met-1101 codon (ATG) to a lys (AAG), resulting in a missense mutation in exon17b in the CFTR gene [MET1101LYS (M1101K)] |
| 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 |
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| Chou LS, Lyon E, Wittwer CT, A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model. Am J Clin Pathol124(3):330-8 2005 |
| PubMed ID: 16191501 |
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| Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K, Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am J Hum Genet52:609-15 1993 |
| PubMed ID: 7680525 |
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| Naylor SL, Barnett DR, Buchanan JM, Latimer J, Wieder K, Marshall S, Gardner J, Denning CR, Gluckson M, Pinero R, et al, Linkage of cystic fibrosis locus and polymorphic DNA markers in 14 families. Am J Hum Genet39:707-12 1986 |
| PubMed ID: 3026173 |
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| Spence JE, Rosenbloom CL, O'Brien WE, Seilheimer DK, Cole S, Ferrell RE, Stern RC, Beaudet AL, Linkage of DNA markers to cystic fibrosis in 26 families. Am J Hum Genet39:729-34 1986 |
| PubMed ID: 2879439 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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