Name細胞名稱：NTCC? GM24302 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; symptom onset at 1 year of age; diagnosis at 2 years of age; birthweight: 6 lbs; mother had poor weight gain during pregnancy; dysmorphic facial features; dental abnormalities; long fingers/limbs (marfanoid habitus); contractures; pes planus; scoliosis; pectus excavatum; defective vision; strabismus; hypotonia; seizures; ear infections that led to myringotomy tubes; atrial septal defect X2; failure to thrive; fine motor delay; gross motor delay; speech delay; lean body habitus; intellectual disability; ADHD; sleep disturbance; self-injurious behaviors; unaffected mother is GM24301 (Lymph).
Category分類：B-Lymphocyte
ID編號:NTCC?-GM24302
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:17 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:
Family:3117
Relationship:proband
Karyotype:46,XY,del(17)(p11.2p11.2).arr[hg19] 17p11.2(16735531-20373037)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
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