GM28249
iPSC from Fibroblast
Description:
CANAVAN DISEASE
ASPARTOACYLASE; ASPA
HEXOSAMINIDASE A; HEXA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Sendai)
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Sample Source
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iPSC from Fibroblast
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Race
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Not Reported
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Country of Origin
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USA
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX[20]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
15 |
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| 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. |
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| Gene |
ASPA |
| Chromosomal Location |
17pter-p13 |
| Allelic Variant 1 |
608034.0003; CANAVAN DISEASE |
| Identified Mutation |
ALA305GLU; In patients with Canavan disease (271900), Kaul et al. (1994) identified a 914C-A change in exon 6 of the ASPA gene, resulting in an ala305-to-glu (A305E) substitution. The mutation was found exclusively in non-Jewish patients and constituted 60% of the 40 chromosomes analyzed. Expression of the mutation in COS-1 cells showed a complete loss of ASPA enzyme activity.
Shaag et al. (A J Hum Genet 57:572-580,1995) found the ala305-to-glu (A305E) mutation due to a GCA-to-GAA transversion in 15 out of 38 mutant alleles in 19 non-Jewish patients. This distribution was pan-European, suggesting that it is the most ancient mutation.
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| Gene |
ASPA |
| Chromosomal Location |
17pter-p13 |
| Allelic Variant 1 |
G176D; CANAVAN DISEASE |
| Identified Mutation |
GLY176ASP |
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| Gene |
ASPA |
| Chromosomal Location |
17pter-p13 |
| Allelic Variant 1 |
608034.0005; CANAVAN DISEASE |
| Identified Mutation |
TYR231TER; In Ashkenazi Jewish patients with Canavan disease, Kaul et al. [Genomics 21: 364-370 1994)] identified a 693C-A nonsense mutation in exon 5 of the ASPA gene (Y231X). Expression of the mutation in COS-1 cells showed a complete loss of ASPA enzyme activity. Among Ashkenazi Jewish patients with Canavan disease, Kaul et al. [Hum. Genet. 59: 95-102 (1996)] found that the G285A missense mutation (608034.0001) and the Y231X nonsense mutation accounted for 97% of 104 mutant chromosomes examined. |
| Remarks |
Clinically affected; skin fibroblasts show deficient N-acetylaspartoacylase activity; for the ASPA gene, the donor subject is heterozygous for a c.914 C>A (exon 6, A305E), heterozygous for a novel c.527 C>A mutation (exon 4, G176D), and heterozygous for a c.693 C>T polymorphism (exon 5, Y231X); donor subject is also homozygous for a R249W mutation in the HEXA gene (83/17 mut/wt), associated with HEX A pseudodeficiency; similarly affected sibling (GM00060). Stem cell line reprogrammed from parental fibroblast line GM00059 (fibroblast). 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. |
| Passage Frozen |
15 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
0% none |
| Substrate |
Matrigel |
| Supplement |
- |
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