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GM03606 Amniotic fluid-derived cell line from Amniotic fluid

Description:

TRISOMY 21
ANEUPLOID CHROMOSOME NUMBER - TRISOMY

Affected:

No Data

Sex:

Female

Age:

18 FW (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Biopsy Source Amniotic fluid
Cell Type Amniotic fluid-derived cell line
Transformant Untransformed
Sample Source Amniotic fluid-derived cell line from Amniotic fluid
Race More than one race
Ethnicity BLACK/CAUCASIAN
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 47,XX,+21
Species Homo sapiens
Common Name Human
Remarks Black/Caucasian; 47,XX,+21; less sensitive to interferon A and B compared to normal diploid fibroblasts

Characterizations

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Passage Frozen 4
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 21: ANEUPLOID Aneuploid Segment (+)21pter>21qter
Chromosome 21: ANEUPLOID Trisomic Segment 21pter>21qter

Phenotypic Data

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Remarks Black/Caucasian; 47,XX,+21; less sensitive to interferon A and B compared to normal diploid fibroblasts

Publications

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Kim SY, Lee SM, Kim SM, Kim BJ, Koo JN, Oh IH, Oh S, Park CW, Jun JK, Lim JH, Ryu HM, Park JS, Novel method of real-time PCR-based screening for common fetal trisomies BMC medical genomics14:195 2020
PubMed ID: 34330281

External Links

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dbSNP dbSNP ID: 17142
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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Passage Frozen 4
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Amniotic Fluid Culture Medium
Serum none
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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