GM10903 DE SANCTIS-CACCHIONE SYNDROME | EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6 _x000D_ _x000D_ Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM10903 DE SANCTIS-CACCHIONE SYNDROME | EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6 _x000D_ _x000D_ Cell Line
DE SANCTIS-CACCHIONE 综合征 |切除-修复交叉互补，第 6 组； ERCC6细胞株
Description描述：Clinically affected; normal early development; development ceased by age 3 years old; lost ability to walk and most of speech; marked growth retardation without signs of the cachectic dwarfism seen in Cockayne syndrome; microcephaly, facial freckling, hyperpigmented macules and telangiectasias; spasticity of the limbs; ataxic and scissoring gait; mild equinovarus deformity of right foot; diminished deep-tendon reflexes; ocular and cutaneous solar sensitivity; mild strabismus; bilateral conjunctival erythema; parents are distant relatives; refer to patient 2 in Greenhaw et al (PMID: 1372469) for more details; as noted in a publication by Colella et al (PMID: 10767341), donor subject is homozygous for a C>T transition at nucleotide 2282 (2282C>T) in the ERCC6 gene, resulting in a nonsense mutation at codon 735 [ARG735TER (R735X)]; the donor subject is also homozygous for a silent change at nucleotide 2830 [a C>T transition (2830C>T; GLY917GLY)];see GM10902 (lymph); affected brother is GM10904(lymph)/GM10905(fibro); unaffected mother is GM10900(lymph)/GM10901(fibro)._x000D_ _x000D_ _x000D_
Category分类：Fibroblast
ID编号:NTCC®-GM10903
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: Hispanic/Latino
Age年龄:9 YR
Gender性别:Female
Cell Type细胞类型: DE SANCTIS-CACCHIONE SYNDROME | EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6 _x000D_ _x000D_
Affected State:Yes
Product:Fibroblast
Gene:ERCC6
Mutations突变:ARG735TER
Ethnicity:MEXICAN
Family:1298
Relationship:proband
Karyotype:
Tissue Type组织来源:
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:

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