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Cellosaurus IBMS-iPSC-027-01 (CVCL_RP80)

[Text version]
Cell line name IBMS-iPSC-027-01
Accession CVCL_RP80
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-027-01 (RRID:CVCL_RP80)
Comments From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
Population: Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2719; DDC; Simple; c.714+4A>T (IVS6+4A>T) (IVS6DS,A-T,+4); ClinVar=VCV000864024; Zygosity=Homozygous (BCRC=SC81077).
Disease Aromatic L-amino-acid decarboxylase deficiency (NCIt: C142085)
Aromatic L-amino acid decarboxylase deficiency (ORDO: Orphanet_35708)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 11Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) BCRC; SC81077
Cell line databases/resources SKIP; SKIP005673
Encyclopedic resources Wikidata; Q54897197
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10