Name：NTCC? NA10624 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA10624
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 50 YR
Gender性別: Male
Description描述: CONGENITAL OPTIC ATROPHY, TYPE UNKNOWN
Remarks: Clinically affected; onset in mid-teens (age 17 years); rapid onset of visual loss in teens, starting with slightly blurry vision then progressive deterioration of visual acuity within a span of months; underwent exploratory craniotomy and optic nerve sheath decompression for scar tissue on the optic nerve; very slow progression, if any, since mid-teens; visual acuity noted to be 20/400 in either eye (with correction); Ishihara contrast plate testing: no plates were identifiable by donor subject; Farnsworth Dichotomous Test for color blindness revealed primarily a tritan deficiency in the right eye, although mixed abnormalities were present. In the left eye deutan and tritan abnormalities with a mixed deficit were identified; optic atrophy of 3-4+ was present with marked "pipes-on-the-ground" appearance of the retinal vessels due to retinal nerve fiber layer atrophy; ERG showed photopic O.D. and O.S. having subnormal amplitudes with normal implicit times; scotopic O.S. has subnormal amplitudes and borderline normal implicit times, which suggests congenital photoreceptor loss with O.S. worse than O.D.; Goldman visual field demonstrated enlargement of blindspot superiorly in right eye, and a superior central scotoma with a sharp linear margin and the horizontal meridian; enlargement of the blind spot in the left eye with a cecocentral pattern involving area of central fixation, a smaller more dense area was present between 10 and 20 degrees superiorly; mitochondrial DNA retains the Sfa NI restriction site, indicating subject is negative for Leber's optic atrophy; see GM10625 (fibro); affected brother is GM03857 (lymph) and GM03858 (fibro).
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
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Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net