Name細(xì)胞名稱(chēng)：NTCC? GM04648 DYSTROPHIA MYOTONICA 1; DM1 B-Lymphocyte Cell Line
肌營(yíng)養(yǎng)不良1； DM1細(xì)胞株
Description描述：Clinically affected; diagnosed at age 22; bilateral cataracts; frontal baldness; bilateral ptosis; limitation of full lid closure; myotonic ocular response; facial diparesis; diminished phonation amplitude; weakness of intrinsic muscles of the face; myotonic lingual response; loss of muscle bulk to the hands; depressed deep tendon reflexes; myotonia evident with hand grip and after thenar percussion; weakness to the extensors and flexors of the wrist and to the intrinsic muscles of the hands; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1000 (minor species at ~700-800) in the DMPK gene; affected father is GM04573; affected grandfather is GM05142; affected paternal aunt is GM05281; see GM04647 fibroblast
Category分類(lèi)：B-Lymphocyte
ID編號(hào):NTCC?-GM04648
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:23 YR
Gender性別:Male
Cell Type細(xì)胞類(lèi)型: DYSTROPHIA MYOTONICA 1; DM1
Affected State:Yes
Product:LCL
Gene:DMPK
Mutations突變:(CTG)n EXPANSION
Ethnicity:
Family:752
Relationship:son
Karyotype:
Tissue Type組織來(lái)源:Blood
Complete Growth Medium完全培養(yǎng)基: BioVector? Roswell Park Memorial Institute Medium 1640 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):

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