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RCi004-B

Donor information

Gender:Female
Age:45-49

Disease status

Disease: Huntington disease
Affected: No
Carrier: Yes
Disease stage: Pre-symptomatic at time of biopsy
Disease variant
Gene: HTT
Chromosome location: 4p16.3
Nucleotide sequence HGVS: NM_002111.7:c.52CAG[40]
Zygosity: Heterozygous
ClinVar ID: SCV000054533.1
Description: DNA sample indicates one CAG repeat allele within the normal range (approximately 18 repeats) and one allele within the Huntington disease affected range (approximately 40 repeats) in the HTT gene.
Disease associated phenotypes:Mutant gene: HTT

General information

Depositor:Roslin Cells
Cell line name:RCi004-B
Cell line alternative names:RCi68, PDSC-3
Biosamples ID:SAMEA3106205
hPSCreg name:RCi004-B

Related lines

From the same donor: RCi004-A
Timepoint: Confluence
Magnification: 4x
Timepoint: Confluence
Magnification: 10x
At European Collection of Authenticated Cell Cultures (ECACC)
In stock
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