Name細胞名稱：NTCC? GM27199 BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-1; COL6A1 B-Lymphocyte Cell Line
貝瑟勒姆肌病 | VI 型膠原蛋白 ALPHA-1；科爾6A1細胞株
Description描述：Clinically affected; age of diagnosis 47 years and age of symptom onset at birth; current motor function includes holding head up when sitting and sitting when placed; maximum motor function included climbing at least 4 stairs without handrail; heterozygous genetic variant found in COL6A1 gene c.841G>A (p.Gly281Arg); BiPAP used most/all nights for less than 12 hours; assistive devices include a wheelchair and service animal; treatments include physical therapy, occupational therapy, and orthopedic surgery; medications include diovan.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM27199
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:49 YR
Gender性別:Female
Cell Type細胞類型: BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-1; COL6A1
Affected State:Yes
Product:LCL
Gene:COL6A1
Mutations突變:c.841G>A
Ethnicity:English, Irish
Family:
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