Home  |  Contact

Cellosaurus BIHi002-A (CVCL_UM44)

[Text version]

Cell line name BIHi002-A
Accession CVCL_UM44
Resource Identification Initiative To cite this cell line use: BIHi002-A (RRID:CVCL_UM44)
Comments From: Berlin Institute of Health; Berlin; Germany.
Sequence variations Heterozygous for CLCN7 p.Gly292Glu (c.875G>A) and p.Arg403Gln (c.1208G>A) (PubMed=30763735).
Disease Autosomal recessive osteopetrosis (NCIt: C129733)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_UM45 ! BIHi002-B
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell

PubMed=30763735; DOI=10.1016/j.scr.2018.101367
Hennig A.F., Rossler U., Boiti F., von der Hagen M., Gossen M., Kornak U., Stachelscheid H.
Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis.
Stem Cell Res. 35:101367-101367(2019)

Cell line databases/resources hPSCreg; BIHi002-A
Biological sample resources BioSamples; SAMEA5573666
Entry history
Entry creation25-Feb-2019
Last entry updated25-Feb-2019
Version number1