Name細胞名稱：NTCC? GM16969 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 | COLLAGEN, TYPE I, ALPHA-2; COL1A2 B-Lymphocyte Cell Line
成骨不全，IV 型； OI4 |膠原蛋白，I 型，ALPHA-2；列1A2細胞株
Description描述：Clinically affected; blue scalerae; edent dentition; history of kidney stones; bone density score for spine indicates osteoporosis; history of eight fractures; see GM16970 Fibroflast; donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene [Gly610Cys (G610C)]
Category分類：B-Lymphocyte
ID編號:NTCC?-GM16969
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:51 YR
Gender性別:Male
Cell Type細胞類型: OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 | COLLAGEN, TYPE I, ALPHA-2; COL1A2
Affected State:Yes
Product:LCL
Gene:COL1A2
Mutations突變:GLY610CYS
Ethnicity:AMISH
Family:1997
Relationship:brother
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
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