GM26227

GM26227 Fibroblast from Skin, Skin

Description:

YARSOPATHY
TYROSYL-TRNA SYNTHETASE; YARS

Affected:

Yes

Sex:

Female

Age:

3 MO (At Sampling)

Overview

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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

1

Family History

Y

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; failure to thrive; anemia; liver synthetic failure; homozygous mutation in YARS: c.499C>A (p.Pro167Thr); family history: deceased second cousin (paternal side) had the same diagnosis; the father, GM26228 (fibroblast), carries the heterozygous mutation in YARS, c.499C>A (p.Pro167Thr).

Characterizations

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PDL at Freeze

4.67

Passage Frozen

3

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

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Remarks

Clinically affected; failure to thrive; anemia; liver synthetic failure; homozygous mutation in YARS: c.499C>A (p.Pro167Thr); family history: deceased second cousin (paternal side) had the same diagnosis; the father, GM26228 (fibroblast), carries the heterozygous mutation in YARS, c.499C>A (p.Pro167Thr).

External Links

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Gene Cards

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

NCBI GTR

603623 TYROSYL-tRNA SYNTHETASE 1; YARS1

OMIM

603623 TYROSYL-tRNA SYNTHETASE 1; YARS1

Culture Protocols

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Cumulative PDL at Freeze

4.67

Passage Frozen

3

Split Ratio

1:6

Temperature

37 C

Percent CO2

5%

Percent O2

AMBIENT

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

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD