Name細胞名稱：NTCC? GM24232 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-2; COL6A2 B-Lymphocyte Cell Line
烏爾里希先天性肌營養不良癥； UCMD1 | VI 型膠原蛋白，ALPHA-2；科爾6A2細胞株
Description描述：Clinically affected; onset of symptoms at birth; motor functions achieved and currently maintained: held head up without assistance at 4 months; turned in bed without assistance at 4 months; sat without assistance at 8 months; stood without assistance at 14 months; walked with assistance at 22 months; maximum motor function ever achieved: walking outdoors without assistance at 22 months; cannot climb stairs with handrail; cannot run; motor skills are relatively normal, but needs supervision to prevent falling when walking; diagnosis confirmed by muscle biopsy; abnormal creatine kinase; mildly underdeveloped brain by MRI/CT scan; sequencing revealed that donor subject is a compound heterozygote: one allele has a C>G transversion at nucleotide 856-3 in intron 6 of the COL6A2 gene (IVS6-3C>G) resulting in the disruption of the normal splice acceptor site between intron 6 and exon 7; the second allele has an A>T transversion at nucleotide 2386 in exon 26 resulting in a premature stop at codon 796 [Lys796Ter (K796X)]; same as GM23308 (Fibro); unaffected father is GM23306 (Lymph) and GM23307 (Fibro); unaffected mother is GM23305 (Lymph).
Category分類：B-Lymphocyte
ID編號:NTCC?-GM24232
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: Korean
Age年齡:5 YR
Gender性別:Female
Cell Type細胞類型: ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-2; COL6A2
Affected State:Yes
Product:LCL
Gene:COL6A2
Mutations突變:IVS6-3C>G LYS796TER
Ethnicity:
Family:3005
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