GM28937

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Protocols

Protocol PDF

Biopsy Source

Blood

Cell Type

Stem cell

Cell Subtype

Induced pluripotent stem cell

Transformant

Reprogrammed (Sendai)

Sample Source

iPSC from Blood

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Irish, English, Spanish, French, Italian, Mexican

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XY[20]

Species

Homo sapiens

Common Name

Human

Remarks

See Phenotypic Data Tab. Same donor as GM27863 (Lymph) and GM27874 (fibro); see Family Number 3466. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune.

Characterizations

Passage Frozen

Induced Pluripotent Stem Cell

The parental cell line was recovered reprogrammed to an induced pluripotent stem cell line and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis.

Gene

SLC6A8

Chromosomal Location

Xq28

Allelic Variant 1

300036..0003; CEREBRAL CREATINE DEFICIENCY SYNDROME 1

Identified Mutation

c.1222_1224DELTTC (p.F408del); Bizzi et al. (2002) reported a child with creatine deficiency (300352) who had severe neurologic disturbances including seizures, behavioral problems, speech delay, and inability to engage in structured play. Proton magnetic resonance spectroscopic imaging showed absence of creatine in the whole brain, which was not corrected by creatine supplementation. Analysis of the SLC6A8 gene showed a hemizygous 3-bp deletion in exon 8, 1221delTTC, resulting in the deletion of a single phenylalanine at residue 408 in a conserved region of the protein. The patient's mother was heterozygous for the mutation.