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NA00999
DNA
from
Fibroblast
Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Affected:
Yes
Sex:
Female
Age:
13
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
Publications
External Links
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
Class
Other Disorders of Known Biochemistry
Quantity
10 µg
Quantitation Method
Please see our
FAQ
Cell Type
Fibroblast
Transformant
Untransformed
Sample Source
DNA from Fibroblast
Race
White
Relation to Proband
proband
Confirmation
Biochemical characterization - other
Species
Homo
sapiens
Common Name
Human
Remarks
Diagnosed at age 3; 1 affected and 6 normal sibs; sweat chloride: 144 meq/L; symptoms are GI and pulmonary; donor subject is a compound heterozygote: one allele of the CFTR gene carries a G-to-T substitution at 621+1 in intron 4 which results in an mRNA splicing defect (621+1G>T) and a second allele carries an insertion of TC after nucleotide 1154 (1154insTC) which results in a frameshift
PDL at Freeze
5.2
Passage Frozen
21
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
Gene
CFTR
Chromosomal Location
7q31.2
Allelic Variant 1
mRNA splicing defect; CYSTIC FIBROSIS
Identified Mutation
621+1G>T
Gene
CFTR
Chromosomal Location
7q31.2
Allelic Variant 2
frameshift; CYSTIC FIBROSIS
Identified Mutation
1154insTC
Remarks
Diagnosed at age 3; 1 affected and 6 normal sibs; sweat chloride: 144 meq/L; symptoms are GI and pulmonary; donor subject is a compound heterozygote: one allele of the CFTR gene carries a G-to-T substitution at 621+1 in intron 4 which results in an mRNA splicing defect (621+1G>T) and a second allele carries an insertion of TC after nucleotide 1154 (1154insTC) which results in a frameshift
Kurz JB, Perkins JP
, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981
PubMed ID:
6170925
dbSNP
dbSNP ID: 17885
Gene Cards
CFTR
Gene Ontology
GO:0005216 ion channel activity
GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity
GO:0005260 channel-conductance-controlling ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005624 membrane fraction
GO:0005887 integral to plasma membrane
GO:0006811 ion transport
GO:0007585 respiratory gaseous exchange
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030165 PDZ domain binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
NCBI Gene
Gene ID:1080
NCBI GTR
219700 CYSTIC FIBROSIS; CF
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
OMIM
219700 CYSTIC FIBROSIS; CF
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Omim Description
CYSTIC FIBROSIS; CF
MUCOVISCIDOSIS
No data is available
No data is available
Pricing
Commercial/For-profit:
$180.00
USD
Academic/Non-profit/Government:
$92.00
USD
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GM00999 - Fibroblast
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