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GM09852 Fibroblast from Skin, Unspecified

Description:

ICHTHYOSIS, X-LINKED

Affected:

Yes

Sex:

Male

Age:

9 YR (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
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant pSV3-neo plasmid
Sample Source Fibroblast from Skin, Unspecified
Race White
Ethnicity SARDINIAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN Unstable karyotype; near tetraploid; 100% cells show abnormalities; chromosomes per cell varies from 48 to 88
Species Homo sapiens
Common Name Human
Remarks Transformant produced by transfecting GM03030 with DNA from the pSV3-neo plasmid carrying a dominant selection marker; selectable with the antibiotic G418 an aminoglycoside; 100% cells with chromo abnormalities; T-antigen positive

Characterizations

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Passage Frozen 25
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis. DNA fingerprinting and HLA DQ-alpha typing showed that this pSV3-neo transformed fibroblast culture had the same pattern and genotype as GM03030, the untransformed fibroblast.
 

Phenotypic Data

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Remarks Transformant produced by transfecting GM03030 with DNA from the pSV3-neo plasmid carrying a dominant selection marker; selectable with the antibiotic G418 an aminoglycoside; 100% cells with chromo abnormalities; T-antigen positive

Publications

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Chang PL, Gunby JL, Tomkins DJ, Mak I, Rosa NE, Mak S, Transformation of human cultured fibroblasts with plasmids carrying dominant selection markers and immortalizing potential. Exp Cell Res167:407-16 1986
PubMed ID: 3021482

External Links

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dbSNP dbSNP ID: 18021
Gene Ontology GO:0004773 steryl-sulfatase activity
GO:0005509 calcium ion binding
GO:0005624 membrane fraction
GO:0005764 lysosome
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005792 microsome
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0006706 steroid catabolism
GO:0007565 pregnancy
GO:0008152 metabolism
GO:0008544 epidermis development
GO:0016021 integral to membrane
GO:0016787 hydrolase activity
NCBI Gene Gene ID:412
NCBI GTR 308100 ICHTHYOSIS, X-LINKED; XLI
OMIM 308100 ICHTHYOSIS, X-LINKED; XLI
Omim Description ARSC, s FORM, INCLUDED
  ARSC1, INCLUDED
  ICHTHYOSIS, X-LINKED
  PLACENTAL STEROID SULFATASE DEFICIENCY; STS
  STEROID SULFATASE DEFICIENCY
  STEROID SULFATASE DEFICIENCY DISEASE; SSDDARYLSULFATASE C, s FORM, INCLUDED

Culture Protocols

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Passage Frozen 25
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 10% fetal bovine serum Not inactivated
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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