GM21902生长激素不敏感综合症 |生长激素受体； GHR B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM21902 GROWTH HORMONE INSENSITIVITY SYNDROME | GROWTH HORMONE RECEPTOR; GHR B-Lymphocyte Cell Line
生长激素不敏感综合症 |生长激素受体；生长激素释放率细胞株
Description描述：Clinically affected; height 74.4 cm; random growth hormone level was 34; IGF-I level was less than 10 (normal 70-288); IGF-II level was 16 (normal 334-642); IGFBP3 level was 0.11 (normal 1.5-3.4); GHBP activity was 5.2% of normal; donor subject is presumed homozygous for a 2 bp deletion involving codon 230 in exon 7 of the GHR gene (either TA or AT) causing a frameshift and an in-frame stop codon 4 codons downstream [fs234Ter]; homozygosity could not be confirmed due to the unavailability of parental samples.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM21902
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: Black/African American
Age年龄:5 YR
Gender性别:Female
Cell Type细胞类型: GROWTH HORMONE INSENSITIVITY SYNDROME | GROWTH HORMONE RECEPTOR; GHR
Affected State:Yes
Product:LCL
Gene:GHR
Mutations突变:2-BP DEL, FS234TER
Ethnicity:SOUTH AFRICAN
Family:2810
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
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