Description:
ROTHMUND-THOMSON SYNDROME; RTS
RECQ PROTEIN-LIKE 4; RECQL4
Repository
|
NIA Aging Cell Culture Repository
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Subcollection |
Heritable Diseases |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
Hispanic/Latino
|
Ethnicity
|
MEXICAN
|
Family Member
|
2
|
Relation to Proband
|
mother
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
ISCN
|
46,XX
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
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 |
|
Gene |
RECQL4 |
Chromosomal Location |
8q24.3 |
Allelic Variant 1 |
; ROTHMUND-THOMSON SYNDROME |
Identified Mutation |
g.2746del11 |
Remarks |
Clinically unaffected; affected son is AG18371 (fibroblast); AG18373 is a fibroblast 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 with 8% 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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