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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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Hispanic/Latino
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Family Member
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1
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Relation to Proband
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proband
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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,XY,inv(9)(pter>p11::q13>p11::q13>qter),+11[3]/46,XY,inv(9)(pter>p11::q13>p11::q13>qter)[47]
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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 |
GLN810TER; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
g.4503C>T |
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| Gene |
RECQL4 |
| Chromosomal Location |
8q24.3 |
| Allelic Variant 2 |
GLN810TER; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
g.4503C>T |
| Remarks |
Clinically affected; donor has features of severe poikiloderma, small stature, skeletal abnormalities, and right cataract; the donor subject is homozygous 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,XY,inv(9)(p11q13),+11[3]/46,XY,inv(9)(p11q13)[47] 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, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE, Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst95(9):669-74 2003 |
| PubMed ID: 12734318 |
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