GM25492
LCL from B-Lymphocyte
Description:
DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Cell Type
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B-Lymphocyte
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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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White
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Country of Origin
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USA
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Family History
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N
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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 LINE assay |
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| Gene |
GJB2 |
| Chromosomal Location |
13q11-q12 |
| Allelic Variant 1 |
; |
| Identified Mutation |
GLU120DEL |
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| Gene |
GJB2 |
| Chromosomal Location |
13q11-q12 |
| Allelic Variant 1 |
; |
| Identified Mutation |
MET195ILE |
| Remarks |
Clinically affected; symptom onset at birth; diagnosed at age 7 months by a specialist (ENT/audiology); severe profound bilateral sensorineural hearing loss; normal temporal bone MRI; sequencing revealed the subject is a double heterozygote with two mutations in GJB2 gene: c.358_360delGAG resulting in p.Glu120del and c.585G>A resulting in p.Met195Ile; subject negative for mutations in GJB6 and PAX3 genes; normal SNP array: arr(1-22,X)x2 (Human Genome Build 37, hg19, 2009); assistive devices include: hearing aids. |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Supplement |
- |
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