GM20415鉬輔因子缺乏癥皮膚，未特指的成纖維細(xì)胞Cell Line細(xì)胞株-BioVector NTCC細(xì)胞庫(kù)

價(jià)　　格：￥98950
貨　　號(hào)：NTCC?---GM20415
產(chǎn)　　地：北京

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Name細(xì)胞名稱：NTCC? GM20415 MOLYBDENUM COFACTOR DEFICIENCY Skin, Unspecified Cell Line
鉬輔助因子缺乏癥細(xì)胞株
Description描述：Clinically affected; diagnosed in neonatal period; myoclonic seizures developed at age 3 months; occasional myoclonus; global developmental delays; primitive reflexes including stepping gait and exaggerated startle response; fencing posture; normal eye exam; plagiocephaly; undescended testicle on left; at age 5 1/2 months height was 67 cm (75th percentile), weight was 6.6 kg (15th percentile), head circumference was 40.5 cm (30-40th percentile) which has dropped from 60th percentile; at age 6 months there was head lag and very poor head control, no rolling, no purposeful grabbing movements, no visual focusing on objects, no coordination of visual stimuli with purposeful movements, and no response to sound or light stimuli; reflexes 3+ for all extremities and symmetric at age 6 months; EEG showed generalized spikes but no hypsarrhythmia; no sulfite oxidase activity detectable by enzyme determination; S-sulfocysteine assay showed 1598 micromol/g creatinine (normal <24 micromol/g creatinine); urine oxypurines: creatinine = 2.3 mmol/L, uric = 0.830 mmol/mol Cr (normal range 0.33-2), hypoxanthine = 0.121 mmol/mol Cr (normal range 0.01-0.11), xanthine = 0.951 mmol/mol Cr (normal range 0.01-0.09), oxipurinol = 0.000 mmol/mol Cr (normal range 0-0), and AICAR = 0.000 mmol/mol Cr (normal range 0-0).
Category分類：Fibroblast
ID編號(hào):NTCC?-GM20415
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲(chǔ)存方式: RT/Liquid Nitrogen
Race: More than one race
Age年齡:4 MO
Gender性別:Male
Cell Type細(xì)胞類型: MOLYBDENUM COFACTOR DEFICIENCY
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突變:
Ethnicity:CAUCASIAN/OTHER
Family:
Relationship:proband
Karyotype:
Tissue Type組織來(lái)源:Skin
Complete Growth Medium完全培養(yǎng)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(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻(xiàn):

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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Email：Biovector@163.com
http://www.biovector.net