Name細胞名稱：NTCC? GM24523 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; onset of symptoms at birth; drooling; poor weight gain; hypoventilation; BIPAP while sleeping and as needed; cough assist twice daily; at 9 months of age, donor achieved/maintains without assistance: holds up head, turns in bed; maximum motor function: sits unassisted;creatine kinase: 37 umol/L; gDNA was amplified and sequenced for full coding regions of NEB, SEPN1, and TPM3 and ~50 bases of flanking non-coding sequences; subject is compound heterozygous for the following mutations in the NEB gene: c.12018+1G>A (at the junction of exon 80 and intron 80) and c.24458_24461dupAGAT (p.Met8154IlefsStop13, exon 173).
Category分類：B-Lymphocyte
ID編號:NTCC?-GM24523
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: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.12018+1G>A c.24458_24461dupAGAT
Ethnicity:IRISH/GERMAN
Family:3141
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
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