GM10902
LCL from B-Lymphocyte
Description:
DE SANCTIS-CACCHIONE SYNDROME
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
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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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LCL from B-Lymphocyte
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Race
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Hispanic/Latino
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Ethnicity
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MEXICAN
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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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Clinical summary/Case history
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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 |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 1 |
133540.2; DE SANCTIS-CACCHIONE SYNDROME |
| Identified Mutation |
c.2282C>T (p.R735X) |
| |
| Gene |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 2 |
133540.2; DE SANCTIS-CACCHIONE SYNDROME |
| Identified Mutation |
c.2282C>T (p.R735X) |
| Remarks |
Clinically affected; normal early development; development ceased by age 3 years old; lost ability to walk and most of speech; marked growth retardation without signs of the cachectic dwarfism seen in Cockayne syndrome; microcephaly, facial freckling, hyperpigmented macules and telangiectasias; spasticity of the limbs; ataxic and scissoring gait; mild equinovarus deformity of right foot; diminished deep-tendon reflexes; ocular and cutaneous solar sensitivity; mild strabismus; bilateral conjunctival erythema; parents are distant relatives; refer to patient 2 in Greenhaw et al (PMID: 1372469) for more details; as noted in a publication by Colella et al (PMID: 10767341), donor subject is homozygous for a C>T transition at nucleotide 2282 (2282C>T) in the ERCC6 gene, resulting in a nonsense mutation at codon 735 [ARG735TER (R735X)]; the donor subject is also homozygous for a silent change at nucleotide 2830 [a C>T transition (2830C>T; GLY917GLY)];see GM10903 (fibro); affected brother is GM10904(lymph)/GM10905(fibro); unaffected mother is GM10900(lymph)/GM10901(fibro). |
| Abbasi R, Efferth T, Kuhmann C, Opatz T, Hao X, Popanda O, Schmezer P, The endoperoxide ascaridol shows strong differential cytotoxicity in nucleotide excision repair-deficient cells Toxicology and applied pharmacology259:302-10 2011 |
| PubMed ID: 22280988 |
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| Kim N, Kage K, Matsuda F, Lefranc MP, Storb U, B lymphocytes of xeroderma pigmentosum or Cockayne syndrome patients with inherited defects in nucleotide excision repair are fully capable of somatic hypermutation of immunoglobulin genes. J Exp Med186:413-9 1997 |
| PubMed ID: 9236193 |
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| Kim N, Kage K, Matsuda F, Lefranc MP, Storb U, Xeroderma pigmentosa with severe neurological involvement without significant repair defect. Am J Hum Genet45:A47 (1989):413-9 1989 |
| PubMed ID: 9236193 |
| Split Ratio |
1:3 |
| 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 |
- |
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