GM27261 RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM27261 RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1 Cell Line
RETT 综合征，先天性变异 |叉头盒 G1；福克斯G1细胞株
Description描述：Clinically affected; age at diagnosis 15 months; age of symptom onset 3 months; microcephaly; developmental delay; autistic symptoms; epilepsy; a submitted report summarized details of a translocation: t(2;14); the chr 14 breakpoint is located within the FOXG1 regulatory domain; this 14q12 breakpoint truncates the 3'UTR of the non-coding gene c14orf23 20-24 kb 3' to FOXG1 in a region associated with long-range position effect (LRPE) of FOXG1 with symptoms similar to those of point mutations within FOXG1; the chr 2 breakpoint is within 2q36.1, truncating the gene WDFY1 (expressed at low levels in tissue, not highly expressed in brain); EKG results were normal; EEG results were abnormal and showed signs of focal epilepsy; speech language therapy; physical therapy; occupational therapy; medications include keppra, clobazam, trihexyphenidyl, and melatonin; LCL is GM27260; mother is GM27262 (LCL) and father is GM27264 (LCL)/GM27265 (fibro).
Category分类：Fibroblast
ID编号:NTCC®-GM27261
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:2 YR
Gender性别:Male
Cell Type细胞类型: RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突变:
Ethnicity:Italian, Eastern European
Family:3413
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
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