Name細胞名稱：NTCC? GM24300 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; diagnosis at age 11 years; symptom onset noticed at 1.5 years of age; birth history unknown-donor subject was adopted; strabismus; dental abnormalities; scoliosis; hypospadias; history of ear infections; hearing defect-left ear mildly impaired; hypotonia; decreased pain sensitivity; resolved hypothyroidism in infancy with recurring onset at puberty; constipation; fine motor delay; gross motor delay; speech delay; intellectual disability; sleep disturbance; repetitive behaviors; history of self-injurious behaviors; see also GM24314 (Fibro).
Category分類：B-Lymphocyte
ID編號:NTCC?-GM24300
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: Asian, Other
Age年齡:14 YR
Gender性別:Male
Cell Type細胞類型: SMITH-MAGENIS SYNDROME; SMS
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:CHINESE
Family:3149
Relationship:proband
Karyotype:46,XY,del(17)(p11.2p11.2).arr[hg19] 17p11.2(16735531-20433857)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
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