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AG09394 LCL from B-Lymphocyte

Description:

TRISOMY 21
NIA AGING CELL REPOSITORY DNA PANEL - DOWN SYNDROME

Affected:

Yes

Sex:

Male

Age:

2 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Chromosome Abnormalities
Heritable Diseases
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor was diagnosed as Down syndrome (trisomy 21). The family pedigree also contains three paternal cousins with Down's syndrome. The culture was initiated on 2/17/87 by transformation of lymphocytes with Epstein Barr virus. The karyotype is 47,XY,+21. The cells grow in suspension and their morphology is spherical. Unaffected members of this donor's family are AG09393, AG09392, AG09391, AG09390, AG09389, AG09388 and AG09387. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 

Phenotypic Data

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Remarks The donor was diagnosed as Down syndrome (trisomy 21). The family pedigree also contains three paternal cousins with Down's syndrome. The culture was initiated on 2/17/87 by transformation of lymphocytes with Epstein Barr virus. The karyotype is 47,XY,+21. The cells grow in suspension and their morphology is spherical. Unaffected members of this donor's family are AG09393, AG09392, AG09391, AG09390, AG09389, AG09388 and AG09387. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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Shi J, Tan P, Han D, Zhang R, Li J, Zhang R, Non-invasive prenatal screening for foetal trisomy: An assessment of reliability and reporting Clinical biochemistry100:71-77 2021
PubMed ID: 34843730
 
Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW, Circulating Fetal Cell-Free DNA Fractions Differ in Autosomal Aueuploidies and Monosomy X Clin Chem100:71-77 2013
PubMed ID: 24046201

External Links

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dbSNP dbSNP ID: 15375
NCBI Gene Gene ID:1637
NCBI GTR 190685 DOWN SYNDROME
OMIM 190685 DOWN SYNDROME
Omim Description DOWN SYNDROME CRITICAL REGION; DSCR, INCLUDED
  DOWN SYNDROMEDOWN SYNDROME CHROMOSOME REGION; DCR, INCLUDED
  TRISOMY 21

Images

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View karyotype 

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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How to Order
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