ID   IPi002-A
AC   CVCL_D6P8
SY   iPSC-MARCH-AFC-001
DR   BioSamples; SAMEA115370015
DR   hPSCreg; IPi002-A
RX   PubMed=39447316;
CC   From: Institut Pasteur; Paris; France.
CC   Sequence variation: Mutation; HGNC; HGNC:1161; CEP55; Simple; p.Ser425Ter (c.1274C>A); ClinVar=VCV000437874; Zygosity=Homozygous (PubMed=39447316).
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   15FW
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 27-11-25; Version: 3
//
RX   PubMed=39447316; DOI=10.1016/j.scr.2024.103589;
RA   Boulle, Mikael
RA   Leleu, Ambre
RA   Schacre, Siham
RA   Banal, Celine
RA   Boucharlat, Alix
RA   Renault, Solene
RA   Hollenstein, Marcel
RA   Frosk, Patrick
RA   Yates, Frank
RA   Lefort, Nathalie
RA   Agou, Fabrice
RT   "Generation of IPi002-A/B/C human induced pluripotent stem cell lines
RT   from MARCH amniotic fluid cells.";
RL   Stem Cell Res. 81:103589-103589(2024).
//