NG18466
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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Hispanic/Latino
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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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ISCN
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47,XX,+18[14]/46,XX[36]
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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 |
7 |
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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 |
GLN810TER; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
g.4503C>T |
| Remarks |
Clinically unaffected; donor is mother of AG18465 (LCL); the donor subject is heterozygous for a truncating mutation in the RECQL4 gene: a C>T transition at nucleotide g.4503(g.4503C>T) in exon 14 which leads to truncation at codon 810 [GLN810TER (Q810X)]. The karyotype is 47,XX,+18[14]/46,XX[36] with 12% of the cells examined showing random chromosome loss/gain. It is thought that the trisomy 18 arose during culturing. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
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