GM27370

GM27370 Fibroblast

Description:

TAF11 DEFICIENCY
TAF11 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 28-KD; TAF11

Affected:

Yes

Sex:

Female

Age:

21 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Old order Mennonite

Country of Origin

USA

Family Member

Family History

Relation to Proband

sister

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; age of onset at birth; mild intellectual disability; constitutional small size; unilateral microphalmia; microcephaly; preauricular pit; whole exome and Sanger sequencing confirmed homozygous c.464C>T (p.Ser155Phe) mutation in TAF11 gene; affected sister and brother with same mutation are GM27367 (fibro) and GM27371 (fibro), respectively; family 3432.

Characterizations

PDL at Freeze

6.14

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

TAF11

Chromosomal Location

6p21.31

Allelic Variant 1

;

Identified Mutation

c.464C>T [p.Ser155Phe]

Gene

TAF11

Chromosomal Location

6p21.31

Allelic Variant 2

;

Identified Mutation

c.464C>T [p.Ser155Phe]

Phenotypic Data

Demographic Data

Relation to Proband

sister

Age at Sampling

21 YR

Sex

Female

Age at Diagnosis(If not a control)

21 YR

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

C.464C>T (P.SER155PHE) IN THE TAF11 GENE

Zygosity:

Heterozygous
Notes: METHOD: WHOLE EXOME SEQUENCING AND SANGER SEQUENCING

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

BIRTH

Age at Diagnosis:

21 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Microcephaly

Neurological Symptoms

Optical and Audiological Symptoms

Additional Information:

UNILATERAL MICROPHALMIA

Musculoskeletal Symptoms

Developmental Milestones

Abnormal height for age
Abnormal weight for age

Additional Information:

CONSTITUTIONAL SMALL SIZE

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Intellectual Disability:

Mild

Additional Information

Testing Performed

Treatments and Assistive Devices

Medications

Family History

Remarks

External Links

Gene Cards

TAF11

Gene Ontology

GO:0003700 transcription factor activity

GO:0005515 protein binding

GO:0005634 nucleus

GO:0005669 transcription factor TFIID complex

GO:0006355 regulation of transcription, DNA-dependent

GO:0016251 general RNA polymerase II transcription factor activity

GO:0045449 regulation of transcription

NCBI Gene

Gene ID:6882

NCBI GTR

600772 TAF11 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 28-KD; TAF11

OMIM

600772 TAF11 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 28-KD; TAF11

Culture Protocols

Cumulative PDL at Freeze

6.14

Passage Frozen

Split Ratio

1:7

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

Description:

TAF11 DEFICIENCY TAF11 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 28-KD; TAF11

Affected:

Yes

Sex:

Female

Age:

21 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

TAF11 DEFICIENCY
TAF11 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 28-KD; TAF11