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AG10292 Fibroblast from Skin, Abdomen

Description:

ANEUPLOID CHROMOSOME NUMBER - TRISOMY 13

Affected:

No Data

Sex:

Female

Age:

5 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
Biopsy Source Abdomen
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Abdomen
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 47,XX,+13
Species Homo sapiens
Common Name Human
Remarks The donor was diagnosed as trisomy 13 based on clinical features of bilateral cataracts, microphthalmia, micrognathia, microcephaly, cleft palate, scalp lesions, low-set ears, coloboma of the right eye, simian crease of right hand, umbilical and right inguinal hernias, and a holosystolic murmur. The karyotype is 47,XX,+13 and confirms the diagnosis. 2% of cells examined showed 46,XX. The biopsy was taken ante-mortem on 9/12/88 during a hernia operation. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

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PDL at Freeze 6
Passage Frozen 5
 
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 trisomy 13 based on clinical features of bilateral cataracts, microphthalmia, micrognathia, microcephaly, cleft palate, scalp lesions, low-set ears, coloboma of the right eye, simian crease of right hand, umbilical and right inguinal hernias, and a holosystolic murmur. The karyotype is 47,XX,+13 and confirms the diagnosis. 2% of cells examined showed 46,XX. The biopsy was taken ante-mortem on 9/12/88 during a hernia operation. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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Henderson AA, Borgaonkar DS, Trisomy 13 (Patau) syndrome in Delaware. Del Med J57:629-34 1985
PubMed ID: 4076474

External Links

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dbSNP dbSNP ID: 22173

Culture Protocols

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Cumulative PDL at Freeze 6
Passage Frozen 5
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium MEM (Eagle) Alpha Modification with nucleosides with 2mM L-glutamine or equivalent
Serum 20% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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