Name細胞名稱：NTCC? GM23988 PRADER-WILLI SYNDROME; PWS B-Lymphocyte Cell Line
普瑞德威利綜合癥；普沃斯細胞株
Description描述：Clinically affected; prominent occiput; coarse hair; prominent incisors; almond shaped, slightly upslanting eyes; palpebral fissure (90th percentile); anteverted nares; mild left fifth finger clinodactyly; short fourth metacarpal; penile length 3 cm (10th percentile); testicular volume is 5 cm; Tanner stage III; _x000D_ occasional breathing difficulties; persistent nasal stuffiness; dry mouth which causes difficulty swallowing; frequent abdominal pain due to constipation; bruises easily; joint pain; prone to hypothermia and hyperthermia; occasional gastroesophageal reflux; sleep apnea; skin picking; tantrums; anxious; cries easily; karyotype result: 46,XY.ish 15q11-q13(SNRPNx2); 46,XY.ish 22q11.2(TUPLE1X2); methylation result: methylation specific PCR analysis revealed a 174 bp band only, consistent with a diagnosis of Prader-Willi syndrome; treatments include: growth hormone (genotropin); Abilify (anxiety); tonsillectomy and adenoidectomy for sleep apnea; braces to correct prominent incisors; Biotene for dry mouth; physical, occupational, and speech therapy. _x000D_
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23988
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:12 YR
Gender性別:Male
Cell Type細胞類型: PRADER-WILLI SYNDROME; PWS
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XY.arr 15q11.1q13.3(20071672-33065810)x2 hmz,15q11.1q11.2(20284053-22588019)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:

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
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