Name細胞名稱：NTCC? GM23977 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; diagnosed at 2 weeks of age; symptom onset at birth; delivered via emergency C section at 35 weeks gestation due to intrauterine growth restriction, abnormal fetal tracing and abnormal fetal doppler; birth weight 4lbs 11 oz, height 17 inches (below 3rd percentile, corrected for gestational age); spent 70 days in NICU and required an NG tube during this time; hypotonic at birth; decreased central tone; increased peripheral tone in lower extremities; arches back and appears stiff and hypertonic when awake; severe head lag; almond shaped eyes; thin lips; bitemporal narrowing; high palate; mild hypopigmentation; undescended testes; underdeveloped, shell shaped, non-rugated scrotum; single transverse palmar crease (right) and bridged palmar crease (left); weak cry; FISH result: 46,XY.ish del (15) (q11.2 q11.2) (SNRPN-);treatments include: ear tube placement, orchiopexy; genotropin, glycerine suppository for constipation; ventilator; sleep apnea monitor; physical, occupational and speech therapy. _x000D_
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23977
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:5 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:Irish, Mexican
Family:
Relationship:proband
Karyotype:46,XY.arr 15q11.2q13.1(23237163-28560804)x1
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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