Name細胞名稱：NTCC? GM24313 SMITH-MAGENIS SYNDROME; SMS Skin, Skin Cell Line
史密斯-馬吉尼斯綜合癥；短信細胞株
Description描述：Clinically affected, symptom onset at birth; diagnosed at age 25; premature birth (6 weeks) with decreased fetal movement in utero; dysmorphic facial features; dental abnormalities, high palate; brachydactyly; pes planus; scoliosis; short stature; ventriculomegaly; defective vision, strabismus, hearing defect, hypotonia and decreased pain sensitivity; history of pneumonia ages 2-9 with hospitalization due to low tone, reduced peristalsis, and aspiration, left lower lobe and middle lobe removed; constipation; gastroesophageal reflux; enuresis; failure to thrive; enlarged heart noted during echocardiogram and x-rays; fine motor delay; gross motor delay; absent or sparse speech; autism spectrum disorder; learning disability-IQ 50; ADHD; oppositional defiant disorder; obsessive compulsive disorder; sleep disturbance; repetitive behaviors; self-injurious behaviors; anxiety disorder; disruptive behavior disorder; see GM24286 (Lymph); unaffected mother is GM24287 (Lymph).
Category分類：Fibroblast
ID編號:NTCC?-GM24313
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:27 YR
Gender性別:Male
Cell Type細胞類型: SMITH-MAGENIS SYNDROME; SMS
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突變:
Ethnicity:IRISH/SWEDISH/NORWEGIAN
Family:3111
Relationship:proband
Karyotype:46,XY,del(17)(p11.2p11.2).arr[hg19] 17p11.2(16740269-20457488)x1
Tissue Type組織來源:Skin
Complete Growth Medium完全培養基: BioVector? Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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