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GM10904
LCL
from
B-Lymphocyte
Description:
DE SANCTIS-CACCHIONE SYNDROME
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
Affected:
Yes
Sex:
Male
Age:
10
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
Publications
External Links
Culture Protocols
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
Class
Disorders of Nucleotide and Nucleic Acid Metabolism
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Race
White
Family Member
2
Relation to Proband
brother
Confirmation
Clinical summary/Case history
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; sun sensitivity & olivopontocerebellar atrophy with peripheral neuropathy; parents are distant relatives; affected sister is GM10902; see GM10905 Fibroblast for ERCC6 gene mutation data
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by Glucose-6-Phosphate Dehydrogenase and Lactate Dehydrogenase Isoenzyme Electrophoresis
Remark
Clinically affected; sun sensitivity & olivopontocerebellar atrophy with peripheral neuropathy; parents are distant relatives; affected sister is GM10902; see GM10905 Fibroblast for ERCC6 gene mutation data
, Xeroderma pigmentosa with severe neurological involvement without significant repair defect. Am J Hum Genet45:A47 (1989): 1989
PubMed ID:
dbSNP
dbSNP ID: 15722
Gene Cards
ERCC6
NCBI GTR
278800 DE SANCTIS-CACCHIONE SYNDROME
609413 EXCISION REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
OMIM
278800 DE SANCTIS-CACCHIONE SYNDROME
609413 EXCISION REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
Omim Description
DE SANCTIS-CACCHIONE SYNDROME
XERODERMIC IDIOCY OF DE SANCTIS AND CACCHIONE
No data is available
Split Ratio
1:5
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
Pricing
Commercial/For-profit:
$153.00
USD
Academic/Non-profit/Government:
$100.00
USD
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