GM27461 RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM27461 RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1 Skin, Skin 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 of diagnosis at 1 years old; symptom onset at 3 months of age; microcephaly; axial hyptonia; epilepsy; developmental delay; cannot sit or stand independently; chewing problems with strong pharyngeal reflex; laughs or screams spontaneously; constipation; pronounced sleeping problems, though falls asleep quickly; EEG showed slow activity in some parts of the brain; MRI showed simplified gyral patterns but complete corpus callosum; exome sequencing of exon 1 and confirmation by Sanger sequencing revealed a likely pathogenic de novo heterozygous missense variant in FOXG1, c.688C>T (p.Arg230Cys) hg19 chr14:g.29237173C>T, and a de novo heterozygous nonsense variant in IQGAP2, C.2857C>T (p.Gln953*); array cGH revealed a duplication of 147 kb on chromosome 22, 22q12.3 (chr22:32,538,357 bp to 32,685,852 bp, GRCh37), arr(1-22)x2,(XY)x1; medications include omeprazole, laxipeg, valproate acid, and iron supplements; Management: physical therapy, occupational therapy, and speech language therapy; mother and father with no pathological sequence variant in exon 1 of FOXG1 are GM27243 and GM27242, respectively; lymph is GM27241.
Category分类：Fibroblast
ID编号:NTCC®-GM27461
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: RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1
Affected State:Yes
Product:Fibroblast
Gene:FOXG1
Mutations突变:c.688C>T, p.Arg230Cys
Ethnicity:French; Ukraine; Scottish, American
Family:3410
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
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