ID   HPSI0516i-yist_1
AC   CVCL_LF15
SY   WTSIi623-B; WTSIi639-A
DR   BioSamples; SAMEA4675918
DR   ECACC; 77650675
DR   HipSci; HPSI0516i-yist_1
DR   hPSCreg; WTSIi623-B
DR   Wikidata; Q54890983
CC   From: University College London; London; United Kingdom.
CC   From: Wellcome Trust Sanger Institute; Hinxton; United Kingdom.
CC   Population: Caucasian and Chinese.
CC   Sequence variation: Mutation; HGNC; 2206; COL4A4; Simple; p.Pro1096Ser (c.3286C>T); Zygosity=Heterozygous (from autologous cell line HPSI0516i-yist_3).
CC   Sequence variation: Mutation; HGNC; 2207; COL4A5; Simple; p.Gly1232Asp (c.3695G>A); Zygosity=Hemizygous (from autologous cell line HPSI0516i-yist_3).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34842; Alport syndrome
DI   ORDO; Orphanet_63; Alport syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_LF16 ! HPSI0516i-yist_3
SX   Male
AG   22Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 29-06-23; Version: 11
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