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AG10317 LCL from B-Lymphocyte

Description:

TRISOMY 21
NIA AGING CELL REPOSITORY DNA PANEL - DOWN SYNDROME

Affected:

Yes

Sex:

Female

Age:

37 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • 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
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 47,XX,+21
Species Homo sapiens
Common Name Human
Remarks The donor was diagnosed as Down's syndrome (trisomy 21). The karyotype is 47,XX,+21 with 4% of the cells examined showing random chromosome loss/ gain. The culture was initiated on 11/29/88 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. 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's syndrome (trisomy 21). The karyotype is 47,XX,+21 with 4% of the cells examined showing random chromosome loss/ gain. The culture was initiated on 11/29/88 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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San Roman AK, Godfrey AK, Skaletsky H, Bellott DW, Groff AF, Harris HL, Blanton LV, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC, The human inactive X chromosome modulates expression of the active X chromosome Cell genomics3:100259 2022
PubMed ID: 36819663

External Links

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dbSNP dbSNP ID: 18843
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

Culture Protocols

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Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
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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