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GM05567 LCL from B-Lymphocyte

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA

Affected:

No

Sex:

Male

Age:

20 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Nucleotide and Nucleic Acid Metabolism
Class Repair Defective and Chromosomal Instability Syndromes
Alternate IDs GM18018 [XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 3
Relation to Proband brother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically normal; see GM05566 (fibroblast); the donor subject has no known mutations in the XPA gene

Characterizations

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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
 

Phenotypic Data

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Remarks Clinically normal; see GM05566 (fibroblast); the donor subject has no known mutations in the XPA gene

Publications

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Hartinger R, Singh K, Leverett J, Djabali K, Enhancing Cellular Homeostasis: Targeted Botanical Compounds Boost Cellular Health Functions in Normal and Premature Aging Fibroblasts Biomolecules14: 2024
PubMed ID: 39456243
 
States JC, McDuffie ER, Myrand SP, McDowell M, Cleaver JE, Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. Hum Mutat12:103-13 1998
PubMed ID: 9671271

External Links

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dbSNP dbSNP ID: 16121
Gene Ontology GO:0003684 damaged DNA binding
GO:0005515 protein binding
GO:0005634 nucleus
GO:0006289 nucleotide-excision repair
NCBI Gene Gene ID:7507
NCBI GTR 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
OMIM 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
Omim Description XERODERMA PIGMENTOSUM I; XP1
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
  XP, GROUP A
  XPA COMPLEMENTING; XPAC
  XPA CORRECTING

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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