Name細(xì)胞名稱：NTCC? GM23735 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1 B-Lymphocyte Cell Line
烏爾里希先天性肌營養(yǎng)不良癥； UCMD1 | VI 型膠原蛋白 ALPHA-1；科爾6A1細(xì)胞株
Description描述：Clinically affected; symptom onset at less than 2 years of age; maximum motor function ever achieved is sitting unsupported for more than one hour; diagnosis confirmed with muscle biopsy; normal brain scan. COL6A1 exon 9 deletion shown in cDNA sequence, but no mutations at splicing site. Could be large intron deletion. One homozygous variation at COL6A1 Exon9+62 T>C. Both parents are homozygous for the same variant. Fibroblast staining showed almost no matrix with strong intracellular retention.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23735
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race:
Age年齡:
Gender性別:Female
Cell Type細(xì)胞類型: ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1
Affected State:Yes
Product:LCL
Gene:COL6A1
Mutations突變:Ex9 del
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養(yǎng)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(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻(xiàn):

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
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