Name細(xì)胞名稱：NTCC? GM16548 RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2 Skin, Unspecified Cell Line
雷特綜合癥；實(shí)時(shí)傳輸時(shí)間 |甲基-CPG-結(jié)合蛋白2； MECP2細(xì)胞株
Description描述：Clinically affected; abnormal sleep patterns; ambulatory with some rigidity/spasticity; spine has slight curve; breath holding; constipation; decelerating head circumference; limited purposeful hand use; nonverbal; poor hand and feet circulation; repetitive hand motions; seldom exhibits self injurious behavior; small feet; teeth grinding; minor eating difficulties and reflux; tremors; EEG showed minor abnormalities; GM16547 lymphoblast from the same donor; donor subject is heterozygous for a 730C>T transition in the MECP2 gene resulting in the substitution of a stop codon for a conserved glutamine [GLU244TER (Q244X)].
Category分類：Fibroblast
ID編號(hào):NTCC?-GM16548
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲(chǔ)存方式: RT/Liquid Nitrogen
Race: White
Age年齡:5 YR
Gender性別:Female
Cell Type細(xì)胞類型: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Affected State:Yes
Product:Fibroblast
Gene:MECP2
Mutations突變:GLU244TER
Ethnicity:
Family:1955
Relationship:proband
Karyotype:
Tissue Type組織來(lái)源:Skin
Complete Growth Medium完全培養(yǎng)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傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻(xiàn):

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
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