GM24646
Fibroblast from Skin, Skin
Description:
USHER SYNDROME, TYPE IC; USH1C
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases PIGI Consented Sample |
Biopsy Source
|
Skin
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Skin
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
Ashkenazi Jewish; Polish; Russian
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
Y
|
Relation to Proband
|
proband
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.18 |
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Gene |
USH1C |
Chromosomal Location |
11p15.1 |
Allelic Variant 1 |
605242.0002; USHER SYNDROME, TYPE 1C |
Identified Mutation |
238_239insC (R80fs) |
|
Gene |
USH1C |
Chromosomal Location |
11p15.1 |
Allelic Variant 2 |
605242.0002; USHER SYNDROME, TYPE 1C |
Identified Mutation |
238_239insC (R80fs) |
Remarks |
Clinically affected; symptom onset at birth; diagnosed at age 13 years; profound bilateral sensorineural hearing loss; balance issues; retinitis pigmentosa diagnosed in the second decade of life-at age 25 visual acuity was 20/20 with pigmentary retinopathy present in the periphery; electroretinography revealed subnormal rod b-wave, reduced a and b waves of the mixed cone-rod signal, and reduced cone responses, kinetic fields indicated a large central island separated from a far temporal island by and absolute mid-peripheral scotoma, subject was normal for a wide central region but had a decline in sensitivity at 26-30 degrees eccentricity; subject is homozygous for USH1C gene mutation: 238_239insC (R80fs); assistive devices include cochlear implant; subject takes vitamin A, lutein and fish oil supplements; affected sister is GM25303 and unaffected carrier parents are GM25302 (mother) and GM25304 (father). |
Williams DS, Aleman TS, Lillo C, Lopes VS, Hughes LC, Stone EM, Jacobson SG., Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C. Invest Ophthalmol Vis Sci.50(8):3881-9 2009 |
PubMed ID: 19324851 |
Cumulative PDL at Freeze |
6.18 |
Passage Frozen |
2 |
Split Ratio |
1:7 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
3% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Supplement |
- |
|
|