GM27186

GM27186 Fibroblast

Description:

PITT-HOPKINS SYNDROME; PTHS

Affected:

Yes

Sex:

Female

Age:

17 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

European

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; heterozygous mutation in TCF4 c.512delA (p.K171RfsX63) causing a frameshift; microcephaly; wide, open mouth; broad nasal bridge; widely spaced teeth; slender/small hands; slender/small feet; dry skin; constipation; absent or sparse speech; hypotonia; strabismus; unstable, ataxic gait; delayed motor development; incoordination; intellectual disability; stereotypical movements; autism; happy personality; anxiety; behavioral problems; assistive devices include: orthotics; communication/ learning device; glasses; treatment and management include: physical therapy; occupational therapy; psychological therapy; speech language therapy; special education services; surgeries: thumb surgery for lack of tendon in thumb.

Characterizations

PDL at Freeze

9.28

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

TCF4

Chromosomal Location

18q21.2

Allelic Variant 1

p.K171RfsX63; PITT-HOPKINS SYNDROME; PTHS

Identified Mutation

c.512delA

Phenotypic Data

Remarks

External Links

NCBI GTR

610954 PITT-HOPKINS SYNDROME; PTHS

OMIM

610954 PITT-HOPKINS SYNDROME; PTHS

Culture Protocols

Cumulative PDL at Freeze

9.28

Passage Frozen

Split Ratio

1:8

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

International/Commercial/For-profit:

$373.00USD

U.S. Academic/Non-profit/Government:

$216.00USD