GM27325

GM27325 LCL from B-Lymphocyte

Description:

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
FOXG1
PIGI Consented Sample

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

More than one race

Ethnicity

Not Hispanic/Latino

Ethnicity

Indian (50%) / German (25%) / British (25%)

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; onset of symptoms at 6 months of age; diagnosed by a geneticist at 9 months of age; gross motor delay; infantile /epileptic spasms; management includes: physical therapy, occupational therapy, and speech language therapy; heterozygous c.670G>A (p.Gly224Ser) variant found in FOXG1 gene; heterozygous c.806G>A (p.Ser269Asn) variant of uncertain significance found in CNTNAP2 gene; heterozygous c.493+2 T>C (IVS4+2 T>C) variant of uncertain significance found in FOLR1 gene; heterozygous c.22C>A (p.Pro8Thr) variant of uncertain significance found in GAMT gene; medications include adrenocorticotropic hormone (ACTH); fibroblast is GM27300 and iPSC is GM28577; mother is GM27326.