Name細胞名稱：NTCC? GM17603 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 sclerae; good dentition; history of joint laxity; alkaline phosphatase is elevated; bone density score for spine and hip (neck) indicates osteopososis; affected father is GM17589 and affected grandfather is GM17587; see GM17602 Fibroblast; 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?-GM17603
Size/Quantity數(shù)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:7 YR
Gender性別:Female
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:2187
Relationship:niece
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:

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