AG06917 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS | LAMIN A/C; LMNA Skin, Arm Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® AG06917 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS | LAMIN A/C; LMNA Skin, Arm Cell Line
哈金森-吉尔福德早衰综合症；全球定位系统|拉明空调； LMNA细胞株
Description描述：Donor displayed classical signs of progeria including growth retardation; thin skin; a thin, beak-like nose; deficiency of subcutaneous tissue; small clavicles and thin, underdeveloped nails. His parents and 12 sibs are unaffected. Fibroblast cultures from the parents are AG06298 and AG06299. The biopsy for AG06917 was taken ante-mortem from skin of the anterior forearm. The culture was initiated on 9/6/73 using explants of minced tissue. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. Culture was frozen at PDL 34. Donor subject has a de novo single base substitution, a C>T change at nucleotide 2036 (2036C>T), which results in a silent change at codon 608 [Gly608Gly (G608G)] in exon 11 of the Lamin A gene (LMNA). This substitution creates an exonic consensus splice donor sequence and results in activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids from the protein. This altered LMNA protein was detected on western blots [Eriksson et al., Nature 423:293 (2003)]. The legacy karyotype description shown in this Remark may not be representative of the current available product.
Category分类：Fibroblast
ID编号:NTCC®-AG06917
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: White
Age年龄:3 YR
Gender性别:Male
Cell Type细胞类型: HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS | LAMIN A/C; LMNA
Affected State:Yes
Product:Fibroblast
Gene:LMNA
Mutations突变:GLY608GLY
Ethnicity:
Family:949
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net