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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.
Sequence variations Heterozygous for CLCN7 p.Gly292Glu (c.875G>A) and p.Arg403Gln (c.1208G>A) (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
Entry history
Entry creation25-Feb-2019
Last entry updated12-Mar-2020
Version number2