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AG18459 Fibroblast

Description:

ROTHMUND-THOMSON SYNDROME; RTS
RECQ PROTEIN-LIKE 4; RECQL4

Affected:

No

Sex:

Female

Age:

53 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 2
Relation to Proband mother
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected; two affected sons; one affected son is AG18375 (fibroblast)/AG18374 (LCL); AG18376 is a lymphocyte culture from the same donor; the donor subject is heterozygous for a splicing mutation in the RECQL4 gene: in allele one at nucleotide g.2626 there is a G>A substitution (g.2626G>A) in exon 8. The karyotype is 46,XX with 10% of the cells examined showing random chromosome loss/gain and 6% showing random chromosomal aberrations. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

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PDL at Freeze 4.54
 
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.2626G>A

Phenotypic Data

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Remarks Clinically unaffected; two affected sons; one affected son is AG18375 (fibroblast)/AG18374 (LCL); AG18376 is a lymphocyte culture from the same donor; the donor subject is heterozygous for a splicing mutation in the RECQL4 gene: in allele one at nucleotide g.2626 there is a G>A substitution (g.2626G>A) in exon 8. The karyotype is 46,XX with 10% of the cells examined showing random chromosome loss/gain and 6% showing random chromosomal aberrations. The legacy karyotype description shown in this Remark may not be representative of the current available product.

External Links

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dbSNP dbSNP ID: 19028
Gene Cards RECQL4
RTS
Gene Ontology GO:0003676 nucleic acid binding
GO:0003678 DNA helicase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0006281 DNA repair
GO:0007275 development
GO:0008026 ATP-dependent helicase activity
GO:0016787 hydrolase activity
NCBI Gene Gene ID:9401
NCBI GTR 268400 ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2
603780 RECQ PROTEIN-LIKE 4; RECQL4
OMIM 268400 ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2
603780 RECQ PROTEIN-LIKE 4; RECQL4
Omim Description POIKILODERMA ATROPHICANS AND CATARACT
  ROTHMUND-THOMSON SYNDROME; RTS

Culture Protocols

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Cumulative PDL at Freeze 4.54
Temperature 37 C
Percent CO2 5%
Percent O2 5%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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