ID   BIHi002-B
AC   CVCL_UM45
DR   hPSCreg; BIHi002-B
DR   Wikidata; Q93426461
CC   From: Berlin Institute of Health; Berlin; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2025; CLCN7; Simple; p.Gly292Glu (c.875G>A); Zygosity=Heterozygous (from autologous cell line BIHi002-A).
CC   Sequence variation: Mutation; HGNC; 2025; CLCN7; Simple; p.Arg403Gln (c.1208G>A); ClinVar=VCV001687236; Zygosity=Heterozygous (from autologous cell line BIHi002-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129733; Autosomal recessive osteopetrosis
DI   ORDO; Orphanet_667; Autosomal recessive malignant osteopetrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UM44 ! BIHi002-A
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
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