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ESi003-A

Donor information

Gender:Male

Disease status

Disease: X-linked creatine transporter deficiency
Affected: Yes
Carrier: Yes
Disease variant
Gene: SLC6A8
Chromosome location: Xq28
Nucleotide sequence HGSV: NM_005629.3:c.1396G>A
Disease associated phenotypes:CRTR deficiency 1396 G>A

General information

Depositor:Spanish Stem Cell Bank
Cell line name:ESi003-A
Cell line alternative names:[CRTRd]FiPS3819-4F-2
Biosamples ID:SAMEA3303029
hPSCreg name:ESi003-A
Derivation country:Spain
Timepoint: Confluence
Magnification: 4x
Timepoint: Confluence
Magnification: 10x