AG11513 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS | LAMIN A/C; LMNA Skin, Leg Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® AG11513 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS | LAMIN A/C; LMNA Skin, Leg 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 showed typical appearance including alopecia and bilateral symmetrical coxa valga. The biopsy was taken ante-mortem on 5/09/91 from skin of the anterior upper leg. The culture was initiated on 5/10/91 using explants of minced skin tissue. The cell morphology is fibroblast-like. 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)].
Category分类：Fibroblast
ID编号:NTCC®-AG11513
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:8 YR
Gender性别:Female
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:
Relationship:proband
Karyotype:46,XX,inv trp(11)(pter->q25::q25->q21::q21->qter)[5]/46,XX[19].arr(1-22,X)x2
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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:

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