Name細胞名稱：NTCC? GM23929 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB B-Lymphocyte Cell Line
線狀肌病 2，常染色體隱性遺傳； NEM2 |星云蛋白；鼻細胞株
Description描述：Clinically affected; exome sequencing of exons 112 and 176 revealed subject has two mutations in the NEB gene: c.17654G>A (p.Trp5885*), a known causative mutation resulting in a premature protein termination; and c.24771delT (p.Phe8257Leufs*10), a mutation predicted to result in a frame-shift and premature protein termination; family history: maternal first cousin once removed is also affected (not in repository).
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23929
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:5 YR
Gender性別:Female
Cell Type細胞類型: NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB
Affected State:Yes
Product:LCL
Gene:NEB
Mutations突變:c.17654G>A c.24771delT
Ethnicity:Irish, German, Polish
Family:3085
Relationship:proband
Karyotype:
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