Name細胞名稱：NTCC? GM10625 CONGENITAL OPTIC ATROPHY, TYPE UNKNOWN Skin, Buttock Cell Line
先天性視神經萎縮，類型未知細胞株
Description描述：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 GM10624 (lymph); affected brother is GM03857 (lymph) and GM03858 (fibro).
Category分類：Fibroblast
ID編號:NTCC?-GM10625
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:50 YR
Gender性別:Male
Cell Type細胞類型: CONGENITAL OPTIC ATROPHY, TYPE UNKNOWN
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突變:
Ethnicity:JEWISH
Family:567
Relationship:brother
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養基: BioVector? Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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