Name細胞名稱：NTCC? GM23958 HYPERGLYCEROLEMIA | GLYCEROL KINASE; GK B-Lymphocyte Cell Line
高甘油血癥 |甘油激酶；吉克細胞株
Description描述：Clinically affected with juvenile type; onset of symptoms and seizures on day 2 of life; diagnosed at age 3; admitted to hospital at 3 1/2 years of age with vomiting, lethargy, and hypoglycemia (blood glucose 22 mg/dl) resulting in seizures; on physical exam liver was 2 cm below right costal margin; during a 22 hour fasting challenge, blood glucose did not go below 66 mg/dl; he was ketonuric and clinically asymptomatic; organic acid screen revealed large amount of glycerol-blood/urine amino acid analysis unremarkable; urinary glycerol in the fasting state was 37.6 mg/mg creatinine (normal undetectable) and increased to 64.1 mg/mg creatinine after a fatty meal; metabolic and CNS deterioration; mental retardation; mildly developmentally delayed: walked at 18 months, single words at 18 months, speaking in phrases at 22 months; at 6 years 2 months of age Wechsler IQ was 84-verbal 95, non-verbal 74; at age 7 1/2 his IQ dropped from average to low average and triglycerides were at 211-361 mg/dl and cholesterol was at 132-162 mg/dl; GK activity level: 11.6%; subject has a missense mutation in GK gene: 1214G>A:R405Q.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23958
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: Not Reported
Age年齡:12 YR
Gender性別:Male
Cell Type細胞類型: HYPERGLYCEROLEMIA | GLYCEROL KINASE; GK
Affected State:Yes
Product:LCL
Gene:GK
Mutations突變:R405Q
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XY.arr 3q12.2(100340055-100442478)x3
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 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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