Name細胞名稱：NTCC? GM24310 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 1 year of age; diagnosed at 14 months; dysmorphic facial features; brachycephaly; brachydactyly; short stature-growth hormone deficiency; strabismus; sensorineural hearing defect; hypotonia; decreased pain sensitivity; hoarse voice; pulmonic valve stenosis; small but normally functioning kidneys; fine motor delay; gross motor delay; speech delay; intellectual disability; sleep disturbances; repetitive behaviors; self-injurious behaviors; normal MRI; medications include growth hormone; unaffected mother is GM24273 (Lymph) and GM24309 (Fibro).
Category分類：Fibroblast
ID編號:NTCC?-GM24310
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:4 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:MEXICAN/GERMAN/IRISH
Family:3106
Relationship:proband
Karyotype:46,XY,del(17)(p11.2p11.2).arr[hg19] 17p11.2(16769800-20354018)x1,17q12(34443799-34629684)x1
Tissue Type組織來源:Skin
Complete Growth Medium完全培養基: BioVector? Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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