Name細胞名稱：NTCC? GM24278 SMITH-MAGENIS SYNDROME; SMS B-Lymphocyte Cell Line
史密斯-馬吉尼斯綜合癥；短信細胞株
Description描述：Clinically affected; diagnosed at 14 years; dysmorphic facial features; hypotelorism; dental abnormalities; hoarse voice; dry skin; brachydactyly; scoliosis; short stature; hypotonia; obesity; defective vision, strabismus; hearing defect; ataxia, decreased pain sensitivity; constipation; fine motor delay; gross motor delay; speech delay; intellectual disability; ADHD; oppositional defiant disorder; obsessive compulsive disorder; sleep disturbance; repetitive behaviors; self-injurious behaviors; anxiety disorder; disruptive behavior disorder; high total cholesterol; same as GM24311 (Fibro); parents are GM24277 and GM24279.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM24278
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:23 YR
Gender性別:Female
Cell Type細胞類型: SMITH-MAGENIS SYNDROME; SMS
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:
Family:3108
Relationship:proband
Karyotype:45,X,del(17)(p11.2p11.2)[5]/46,XX,del(17)(p11.2p11.2)[15].arr[hg19] 12q24.12(112182244-112289100)x3 mat,17p12p11.2(15777172-20591619)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
Email：Biovector@163.com
http://www.biovector.net