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Cellosaurus IPi002-A (CVCL_D6P8)

[Text version]
Cell line name IPi002-A
Synonyms iPSC-MARCH-AFC-001
Accession CVCL_D6P8
Resource Identification Initiative To cite this cell line use: IPi002-A (RRID:CVCL_D6P8)
Comments From: Institut Pasteur; Paris; France.
Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
Sequence variations
  • Mutation; HGNC; 1161; CEP55; Simple; p.Ser425Ter (c.1274C>A); ClinVar=VCV000437874; Zygosity=Homozygous (hPSCreg=IPi002-A).
Disease Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly (NCIt: C206523)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome (ORDO: Orphanet_500135)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D6P9 ! IPi002-B
CVCL_D6PA ! IPi002-C
Sex of cell Male
Age at sampling Fetus
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; IPi002-A
Biological sample resources BioSamples; SAMEA115370015
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1