Description:
THANATOPHORIC DYSPLASIA; TD
FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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Black/African American
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| Passage Frozen |
6 |
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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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| MUTATION VERIFICATION |
The gene mutation in this cell line was confirmed by sequencing and FRET probe analysis. |
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| 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.
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| 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)] |
| Passage Frozen |
6 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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