GM29449

GM29449 iPSC from Blood

Description:

ARGININOSUCCINIC ACIDURIA
ARGININOSUCCINATE LYASE; ASL

Affected:

Yes

Sex:

Female

Age:

36 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Disorders of the Urea Cycle

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

Country of Origin

USA

Family History

Relation to Proband

proband

ISCN

46,XX[20]

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; symptom onset at 4 days of age; learning disabilities; mental retardation developmental delay; past hyperammonemic events; AS deficiency; decreased argininosuccinase (AS) enzyme activity in cultured fibroblasts or other tissue; neurological evaluation at age 8 years revealed reflex abnormalities; treatments and management: protein restriction, citrulline arginine supplement, citrulline arginine scavenger. 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.