NTCC® NA03858 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA03858

Name：NTCC® NA03858 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA03858
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 33 YR
Gender性别: Male
Description描述: CONGENITAL OPTIC ATROPHY, TYPE UNKNOWN
Remarks: Clinically affected; onset in mid-20's with decreased distance and near acuity; gradual deterioration in acuity from mid 20s to 40s;decreased bilateral visual acuity (20/200 in both eyes without correction); blue-green discrimination problems noticed since childhood, Farnsworth Dichotomous Test for color blindness suggestive of mixed protan and deutan deficiency in the right eye and protan deficiency in the left eye; color vision testing with Ishiara plates was markedly abnormal; Dilated fundus exam demonstrated nearly identical findings in both eyes-a sharp disc margin with a 0.25-0.3 cup/disc ratio and slight temporal pallor (2-3+ temporal greater than nasal pallor with a marked decrease in nerve fiber layer); vessels had a "pipes-on-the-ground" appearance; ERG noted bilateral optic atrophy and deuteranomaly and excluded a diagnosis of wide-spread cone degeneration; visual field examinations revealed increased threshold sensitivity centrally and small frequent eye movements straying from fixation; increasing sensitivity to light; Goldmann visual field test demonstrated a small central scotoma not involving the blind spot present in both eyes; markedly decreased contrast sensitivity bilaterally; mitochondrial DNA retains the Sfa NI restriction site, indicating subject is negative for Leber's optic atrophy; past medical history includes: Hodgkin's disease (stage IIb) treated with radiation and chemotherapy (nitrogen mustard), seizure disorder (brain scan, EEG, and arteriogram showed large A-V malformation in the right parasaggital region), hypothyroidism (as a result of radiation therapy); medications include: Dilantin, Depakene, Synthroid; see GM03857 (lymph) affected brother is GM10624 (lymph) and GM10625 (fibro).
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene:
Disease疾病类型:
Mutations突变:
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
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References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net