GM20192
LCL from B-Lymphocyte
Description:
DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
East Indian
|
|
Ethnicity
|
PAKISTANI
|
|
Family Member
|
2
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
MARVELD2 |
| Chromosomal Location |
5q12.3-q14.1 |
| Allelic Variant 1 |
610572.0003; DEAFNISS, AUTOSOMAL RECESSIVE 49 |
| Identified Mutation |
IVS4+2T>C; In 4 Pakistani families with DFNB49 (610513), Riazuddin et al. (Am J Hum Genet 79:1040-1051, 2006) demonstrated homozygosity for a donor splice site mutation, IVS4+2T-C, in the MARVELD2 gene.
|
| Remarks |
Clinically normal father of three affected children; affected son is GM20193; donor subject is heterozygous for a donor splice site mutation: IVS4+2T>C in the MARVELD2 (TRIC) gene which causes the skipping of exon 4 resulting in a frameshift and premature termination of translation (p.C395fsX403) |
| Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Riazuddin S, Friedman TB, Tricellulin is a tight-junction protein necessary for hearing American journal of human genetics79:1040-51 2006 |
| PubMed ID: 17186462 |
| 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 |
| Supplement |
- |
|
|