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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White
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Family Member
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3
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Relation to Proband
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father
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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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45,X[2]/46,XY[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.2886delT |
| Remarks |
Clinically unaffected; two affected sons; one affected son is AG18375 (fibroblast)/AG18374(LCL); the donor subject is heterozygous for a truncating mutation in the RECQL4 gene [1 bp deletion at nucleotide g.2886 (g.2886delT) in exon 9]. The karyotype is 45,X[2]/46,XY[48] with 6% of the cells examined showing random chromosome loss. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021 |
| PubMed ID: 35394024 |
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