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Cellosaurus BIHi002-B (CVCL_UM45)

[Text version]

Cell line name BIHi002-B
Accession CVCL_UM45
Resource Identification Initiative To cite this cell line use: BIHi002-B (RRID:CVCL_UM45)
Comments From: Berlin Institute of Health; Berlin; Germany.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 2025; CLCN7; Simple; p.Gly292Glu (c.875G>A); Zygosity=Heterozygous (from autologous cell line).
  • Mutation; HGNC; 2025; CLCN7; Simple; p.Arg403Gln (c.1208G>A); Zygosity=Heterozygous (from autologous cell line).
Disease Autosomal recessive osteopetrosis (NCIt: C129733)
Autosomal recessive malignant osteopetrosis (ORDO: Orphanet_667)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_UM44 ! BIHi002-A
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; BIHi002-B
Encyclopedic resources Wikidata; Q93426461
Entry history
Entry creation25-Feb-2019
Last entry update20-May-2021
Version number6