NA08909
DNA from Fibroblast
Description:
THANATOPHORIC DYSPLASIA; TD
FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
Black/African American
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| MUTATION VERIFICATION |
The gene mutation in this cell line was confirmed by sequencing and FRET probe analysis. |
| |
| Gene |
FGFR3 |
| Chromosomal Location |
4p16.3 |
| Allelic Variant 1 |
134934.0013; THANATOPHORIC DYSPLASIA, TYPE I; TD1 |
| Identified Mutation |
SER249CYS; Tavormina et al.(1995) described another cysteine-generating mutation in the extracellular domain of FGFR3: a C-to-G transition at nucleotide 746, which changed serine-249 to cysteine. The authors speculated that the unpaired cysteine residue in this region of the protein might result in formation of intermolecular disulfide bonds between 2 mutant FGFR3 monomers and thereby constitutively activate the receptor complex.
|
| Remarks |
Expired on 1st day of life; short extremities; normal trunk length; narrow, pear-shaped chest; large head; depressed nasal bridge; protruding eyes; short ribs; flat vertebral bodies; small facial bones; large calvarium; donor subject has a C>G transversion at nucleotide 746 in exon 6 of the FGFR3 gene (746C>G) resulting in a substitution of cysteine for serine at codon 249 [Ser249Cys (S249C)] |
|
|