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GM24591 Fibroblast from Skin, Skin

Description:

USHER SYNDROME, TYPE IIC; USH2C

Affected:

No

Sex:

Female

Age:

53 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Skin
Race White
Ethnicity Ashkenazic Jewish
Country of Origin USA
Family Member 3
Family History Y
Relation to Proband mother
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Unaffected carrier of a novel splice site mutation in intron 73 of the GPR98 (VLGR1 ) gene, c.14973-2A>G; mother of affected child: GM24589; father of GM24589 is GM24590.

Characterizations

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PDL at Freeze 5.93
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene GPR98
Chromosomal Location 5q14.3
Allelic Variant 1 ;
Identified Mutation c.14973-2A>G; Novel splice site mutation.

Phenotypic Data

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Remarks Unaffected carrier of a novel splice site mutation in intron 73 of the GPR98 (VLGR1 ) gene, c.14973-2A>G; mother of affected child: GM24589; father of GM24589 is GM24590.

External Links

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NCBI Gene Gene ID:56830
NCBI GTR 605472 USHER SYNDROME, TYPE IIC; USH2C
OMIM 605472 USHER SYNDROME, TYPE IIC; USH2C

Culture Protocols

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Cumulative PDL at Freeze 5.93
Passage Frozen 2
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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