NG18459
DNA from Fibroblast
Description:
ROTHMUND-THOMSON SYNDROME; RTS
RECQ PROTEIN-LIKE 4; RECQL4
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| 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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White
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Family Member
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2
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Relation to Proband
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mother
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Confirmation
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Molecular characterization before 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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| PDL at Freeze |
4.54 |
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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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| Gene |
RECQL4 |
| Chromosomal Location |
8q24.3 |
| Allelic Variant 1 |
; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
g.2626G>A |
| Remarks |
Clinically unaffected; two affected sons; one affected son is AG18375 (fibroblast)/AG18374 (LCL); AG18376 is a lymphocyte culture from the same donor; the donor subject is heterozygous for a splicing mutation in the RECQL4 gene: in allele one at nucleotide g.2626 there is a G>A substitution (g.2626G>A) in exon 8. The karyotype is 46,XX with 10% of the cells examined showing random chromosome loss/gain and 6% showing random chromosomal aberrations. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
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