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GM28582 Fibroblast

Description:

MYOPATHY, DISTAL, 5; MPD5
ADENYLOSUCCINATE SYNTHASE 1; ADSS1

Affected:

No

Sex:

Male

Age:

47 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
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Asian
Subject Type trio
Ethnicity Not Hispanic/Latino
Ethnicity Indian
Country of Origin USA
Family Member 3
Family History Y
Relation to Proband father
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Unaffected carrier. Father of two affected child, including GM28573 (fibro).

Characterizations

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PDL at Freeze 5.34
Passage Frozen 2
 
Gene ADSSL1
Chromosomal Location 14q32.33
Allelic Variant 2 612498.0001; ADENYLOSUCCINATE SYNTHASE 1; ADSS1
Identified Mutation c.910G>A (p.Asp304Asn)

Phenotypic Data

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Remarks Unaffected carrier. Father of two affected child, including GM28573 (fibro).

External Links

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Gene Cards ADSSL1
NCBI GTR 612498 ADENYLOSUCCINATE SYNTHASE 1; ADSS1
617030 MYOPATHY, DISTAL, 5; MPD5
OMIM 612498 ADENYLOSUCCINATE SYNTHASE 1; ADSS1
617030 MYOPATHY, DISTAL, 5; MPD5

Culture Protocols

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Cumulative PDL at Freeze 5.34
Passage Frozen 2
Split Ratio 1:5
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
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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  • GM28982 - Stem cell
  • GM29309 - cell culture
Same Family
  • NIGMS00013
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