ID   HPSI0416i-sevr_2
AC   CVCL_IX44
SY   WTSIi519-B; WTSIi546-A
DR   BioSamples; SAMEA4562351
DR   ECACC; 77650517
DR   HipSci; HPSI0416i-sevr_2
DR   hPSCreg; WTSIi519-B
DR   Wikidata; Q54890774
CC   From: University College London; London; United Kingdom.
CC   From: Wellcome Trust Sanger Institute; Hinxton; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2206; COL4A4; Simple; p.Pro1096Ser (c.3286C>T); Zygosity=Heterozygous (from autologous cell line HPSI0416i-sevr_1).
CC   Sequence variation: Mutation; HGNC; 2207; COL4A5; Simple; p.Gly1232Asp (c.3695G>A); Zygosity=Heterozygous (from autologous cell line HPSI0416i-sevr_1).
CC   Omics: Deep exome analysis.
CC   Omics: Transcriptome analysis by RNAseq.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_IX43 ! HPSI0416i-sevr_1
SX   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 15-05-17; Last updated: 29-06-23; Version: 11
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