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 |
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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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Race
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White
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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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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 |
4.61 |
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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 |
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| Gene |
RECQL4 |
| Chromosomal Location |
8q24.3 |
| Allelic Variant 2 |
; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
g.2886delT |
| Remarks |
Clinically affected; diagnosed with osteosarcoma at age 21 years; small stature; severe poikiloderma; sparse eyebrows, eyelashes and hair; brother had RTS and died of metastatic osteosarcoma; donor is the son of AG18376/AG18459 (mother) and AG18377 (father); AG18374 is a lymphocyte culture from the same donor; the donor subject is a compound heterozygote; in allele one at nucleotide g.2626 there is a G>A substitution (g.2626G>A) in exon 8 of the RECQL4 gene which leads to disrupted splicing; in allele two there is a 1 bp deletion at g.2886 (g.2886delT) in exon 9 of the RECQL4 gene which leads to a truncation. The karyotype is 47,XY,+7[43]/48,XY,+7,+7[3]/48,XXY,+7[2]/46,XY[2] with 20% of the cells examined showing random chromosome loss and 6% showing random chromosomal aberrations. 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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| Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S, Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet90(3):223-8 2000 |
| PubMed ID: 10678659 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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