NA01422
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| MUTATION VERIFICATION |
The gene mutation for this cell line was detected by sequencing only. |
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| Gene |
FGFR3 |
| Chromosomal Location |
4p16.3 |
| Allelic Variant 1 |
134934.0006; THANATOPHORIC DYSPLASIA, TYPE I; TD1 |
| Identified Mutation |
SER371CYS; In 1 out of 39 individuals with type I TD (187600), Tavormina et al. (1995) found an A-to-T transversion at nucleotide 1111 that caused a ser371-to-cys substitution in the extracellular region of the FGFR3 protein.
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| Remarks |
Severely dwarfed; extremely short extremities; small hands and feet; large head; distended abdomen; normal fibroblast alkaline phosphatase activity; negative family history; donor subject has an A>T transversion at nucleotide 1111 in exon 9 of the FGFR3 gene (1111A>T) resulting in a substitution of cysteine for serine at codon 371 [Ser371Cys (S371C)] |
| Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ, Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet9:321-8 1995 |
| PubMed ID: 7773297 |
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