GM20193
LCL from B-Lymphocyte
Description:
DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2
Repository
|
NIGMS Human Genetic Cell Repository
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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
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
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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.
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|
Gene |
MARVELD2 |
Chromosomal Location |
5q12.3-q14.1 |
Allelic Variant 2 |
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 affected; hearing loss confirmed by audiometry; product of consanguineous marriage; two affected siblings; father is GM20192; donor subject is homozygous 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 |
1:3 |
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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