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Cellosaurus BIHi002-A (CVCL_UM44)

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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.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2025; CLCN7; Simple; p.Gly292Glu (c.875G>A); Zygosity=Heterozygous (PubMed=30763735).
  • Mutation; HGNC; HGNC:2025; CLCN7; Simple; p.Arg403Gln (c.1208G>A); ClinVar=VCV001687236; Zygosity=Heterozygous (PubMed=30763735).
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_UM45 ! BIHi002-B
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=30763735; DOI=10.1016/j.scr.2018.101367
Anna Floriane Hennig, Uta Rossler, Franziska Boiti, Maja von der Hagen, Manfred Gossen, Uwe Kornak, Harald Stachelscheid;
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)

Cross-references
Cell line databases/resources hPSCreg; BIHi002-A
Biological sample resources BioSamples; SAMEA5573666
Encyclopedic resources Wikidata; Q93426459
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number10