ID   IPi002-A
AC   CVCL_D6P8
SY   iPSC-MARCH-AFC-001
DR   BioSamples; SAMEA115370015
DR   hPSCreg; IPi002-A
CC   From: Institut Pasteur; Paris; France.
CC   Sequence variation: Mutation; HGNC; 1161; CEP55; Simple; p.Ser425Ter (c.1274C>A); ClinVar=VCV000437874; Zygosity=Homozygous (hPSCreg=IPi002-A).
CC   Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
DI   NCIt; C206523; Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
DI   ORDO; Orphanet_500135; Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D6P9 ! IPi002-B
OI   CVCL_D6PA ! IPi002-C
SX   Male
AG   Fetus
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
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