GM26228

GM26228 Fibroblast from Skin, Skin

Description:

YARSOPATHY
TYROSYL-TRNA SYNTHETASE; YARS

Affected:

No

Sex:

Male

Age:

28 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Skin

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Skin

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

OLD ORDER AMISH

Country of Origin

USA

Family Member

Family History

Relation to Proband

father

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Unaffected carrier; heterozygous mutation in YARS gene: c.499C>A (p.Pro167Thr); family history: deceased first cousin had the same diagnosis; affected child with the homozygous mutation, c.499C>A (p.Pro167Thr), in YARS is GM26227 (fibroblast).

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

YARS

Chromosomal Location

1p35.1

Allelic Variant 1

;

Identified Mutation

c.499C>A (p.Pro167Thr)

Phenotypic Data

Remarks

External Links

Gene Cards

YARS

Gene Ontology

GO:0000049 tRNA binding

GO:0004831 tyrosine-tRNA ligase activity

GO:0004871 signal transducer activity

GO:0005153 interleukin-8 receptor binding

GO:0005524 ATP binding

GO:0005615 extracellular space

GO:0005625 soluble fraction

GO:0005737 cytoplasm

GO:0006412 protein biosynthesis

GO:0006437 tyrosyl-tRNA aminoacylation

GO:0006915 apoptosis

GO:0006928 cell motility

GO:0016874 ligase activity

NCBI Gene

Gene ID:8565

NCBI GTR

603623 TYROSYL-tRNA SYNTHETASE 1; YARS1

OMIM

603623 TYROSYL-tRNA SYNTHETASE 1; YARS1

Culture Protocols

Passage Frozen

Split Ratio

1:7

Temperature

37 C

Percent CO2

Percent O2

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