GM27651

GM27651 Fibroblast from Skin, Arm

Description:

SCHUURS-HOEIJMAKERS SYNDROME; SHMS

Affected:

No

Sex:

Female

Age:

56 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Biopsy Source

Arm

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Arm

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Irish and German

Country of Origin

USA

Family Member

Family History

Relation to Proband

mother

Species

Homo sapiens

Common Name

Human

Remarks

Clinically unaffected; does not carry the de novo mutation in PACS1 that the affected child GM27650 (fibro) has.

Characterizations

PDL at Freeze

5.44

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Phenotypic Data

Remarks

Clinically unaffected; does not carry the de novo mutation in PACS1 that the affected child GM27650 (fibro) has.

Publications

Villar-Pazos S, Thomas L, Yang Y, Chen K, Lyles JB, Deitch BJ, Ochaba J, Ling K, Powers B, Gingras S, Kordasiewicz HB, Grubisha MJ, Huang YH, Thomas G, Neural deficits in a mouse model of PACS1 syndrome are corrected with PACS1- or HDAC6-targeting therapy Nature communications14:6547 2023

PubMed ID: 37848409

External Links

NCBI GTR

615009 SCHUURS-HOEIJMAKERS SYNDROME; SHMS

OMIM

615009 SCHUURS-HOEIJMAKERS SYNDROME; SHMS

Culture Protocols

Cumulative PDL at Freeze

5.44

Passage Frozen

Split Ratio

1:4

Temperature

37 C

Percent CO2

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