NG18373
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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Ethnicity
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MEXICAN
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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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46,XX,t(17;19)(17qter>17p12::19q13.3>19qter;19pter>19q13.3
::17p12>17pter)[2]/46,XX[48]
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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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| 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.2746del11 |
| Remarks |
Clinically unaffected; affected son is AG18371 (fibroblast); AG18372 is a lymphoblast culture from the same donor; the donor subject is heterozygous for a truncating mutation in the RECQL4 gene: an 11 bp deletion at nucleotide g.2746 (g.2746del11) in intron 8 which results in an intron that is too short to be efficiently spliced. The karyotype is 46,XX,t(17;19)(p12;q13.3)[2]/46,XX[48] with 10% of the cells examined showing random chromosome loss/gain. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Wang LL, Worley K, Gannavarapu A, Chintagumpala MM, Levy ML, Plon SE, Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet71(1):165-7 2002 |
| PubMed ID: 12016592 |
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