GM10904

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)

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

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

, 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

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:

$153.00USD

Academic/Non-profit/Government:

$100.00USD