ID   BIHi002-A
AC   CVCL_UM44
DR   BioSamples; SAMEA5573666
DR   hPSCreg; BIHi002-A
DR   Wikidata; Q93426459
RX   PubMed=30763735;
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 (PubMed=30763735).
CC   Sequence variation: Mutation; HGNC; 2025; CLCN7; Simple; p.Arg403Gln (c.1208G>A); ClinVar=VCV001687236; Zygosity=Heterozygous (PubMed=30763735).
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_UM45 ! BIHi002-B
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=30763735; DOI=10.1016/j.scr.2018.101367;
RA   Hennig A.F., Rossler U., Boiti F., von der Hagen M., Gossen M.,
RA   Kornak U., Stachelscheid H.;
RT   "Generation of a human induced pluripotent stem cell line (BIHi002-A)
RT   from a patient with CLCN7-related infantile malignant autosomal
RT   recessive osteopetrosis.";
RL   Stem Cell Res. 35:101367-101367(2019).
//